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Archive for the ‘Gene Therapy Doctor’ Category

Twelve Women Who Have Shaped The History of the BioHealth Capital Region – BioBuzz

The BioHealth Capital Region (BHCR) and its life science ecosystem have a rich and deep history of pioneering scientific innovation, research, development, and commercialization. The regions history has been written by life science anchor companies, scientific research universities, government research organizations, rich startup culture, and serial entrepreneurs, all of whom have played critical roles in transforming the BHCR into one of the most innovative and productive biocluster in the world.

Contributions to the BHCRs legacy of life science achievement have emerged from all staffing levels, various labs, countless executive teams, numerous entrepreneurs and biohub support organizations. Contributions have arisen from an intricate tapestry of backgrounds and cultures.

Women, in particular, have had a strong hand in shaping the history of the BHCR. In celebration of Womens History Month, were taking a closer look at the achievements of female life science leaders that have laid the groundwork for the next generation of women trailblazers in the BHCR and made the region what it is today.

Dr. Fraser is one of the most influential figures in BHCR history. In 1995, she was the first to map the complete genetic code of a free-living organism while at the Institute for Genomic Research (TIGR) in Rockville, Maryland. It was there that the automation of the DNA sequencing process made the idea of large-scale sequencing efforts tangible. As President and Director of TIGR, Fraser and her team gained worldwide public notoriety for its involvement in the Human Genome Project, which was completed in 2000 with the presentation of a working draft of the fully sequenced human genome.

As a leader, Fraser provided her researchers with the infrastructure to collaborate and apply multi-disciplinary team science and empowered them to think big. She is also most importantly known for how she challenged her team to ask the right questions, which is the root of scientific progress and success.

Her work at TIGR and as part of the Human Genome Project are foundational events in the regions history, as it marked the BHCR as the epicenter of genomic research and helped spark the regions biotech boom. In fact, it was a controversial partnership with TIGR that gave Human Genome Sciences(HGSi) the first opportunity to utilize any sequences emerging from TIGR labs. The mass of genetic information and sequences, especially that associated with diseases, that HGSi acquired catapulted them into biotech history and an important anchor company within the region.

Dr. Fraser is widely viewed as a pioneer and global leader in genomic medicine; she has published approximately 320 scientific publications and edited three books; she is also one of the most widely cited microbiology experts in the world. She founded the Institute for Genome Sciences at the University of Maryland in 1997. The institute currently holds 25 percent of the funding thats been awarded by the Human Microbiome Project and has been referred to as The Big House in genetics.

Dr. Judy Britz is yet another female life science pioneer that put the BHCR on the map. While working as a research scientist at Electro-Nucleonics Inc., Dr. Britz developed one of the first licensed blood screening tests for HIV, and launching a storied career that has spanned approximately 25 years. She is also a serial entrepreneur that has successfully raised $50M in capital and served as the top executive for two highly successful Maryland-located companies.

Dr. Britz was the first woman to lead the states biotech initiative as the first announced Executive Director of the Maryland Biotech Center. The center was launched under the Maryland Department of Commerce to deploy a strategic life science economic development plan under Governor Martin OMalleys $1.3B, 2020 Vision and to be a one-stop-shop and information center to promote and support biotechnology innovation and entrepreneurship in Maryland.

Judy was the first woman to lead Marylands life sciences initiative, bringing industry experience and perspective to the states economic development activities, a focus still maintained under Governor Hogans leadership today, shared Judy Costello, Managing Director, Economic Development BioHealth Innovation, Inc., who served as Deputy Director under Dr. Britz.

Much of the work done by Dr. Britz and her team laid the foundation and seeded the commercialization efforts that have blossomed into the thriving #4 Biotech Hub that we have today.

GeneDx was founded by Dr. Bale and Dr. John Compton in 2000. The company recently celebrated its 20th anniversary. Since its founding, GeneDx has become a global leader in genomics and patient testing. Under her leadership, the Gaithersburg, Maryland company has played an important role in the history of genetic sequencing and the rise of the BHCR as a global biohealth cluster.

GeneDx was the very first company to commercially offer NGS (Next Generation Sequencing) testing in a CLIA (Clinical Laboratory Improvement Amendments) lab and has been at the leading edge of genetic sequencing and testing for two decades. The companys whole exome sequencing program and comprehensive testing capabilities are world-renowned.

Prior to launching GeneDx, Dr. Bale spent 16 years at NIH, the last nine as Head of the Genetic Studies Section in the Laboratory of Skin Biology. She has been a pioneer during her storied career, publishing over 140 papers, chapters and books in the field. Her 35-year career includes deep experience in clinical, cytogenetic, and molecular genetics research.

Prior to being named CEO and Chair of the Board of Sequella in 1999, Dr. Nacy was the Chief Science Officer and an Executive VP at EntreMed, Inc. EntreMed was one of the most influential BHCR companies in the 1990s. EntreMed, MedImmune, Human Genome Sciences and Celera Genomics all played critical roles in creating the globally recognized, top biocluster that the BHCR has become.

After earning her Ph.D. in biology/microbiology from Catholic University, Nacy did her postdoc work at the Walter Reed Army Institute of Research in the Department of Rickettsial Diseases; her postdoc performance earned a full-time position at Walter Reed that started a 17-year career at the institute. After a highly successful run, Nacy left Walter Reed to join EntreMed.

Today, Dr. Nacy leads Rockville, Marylands Sequella, a clinical-stage pharmaceutical company focused on developing better antibiotics to fight drug-resistant bacterial, fungal and parasitic infections. Sequellas pipeline of small molecule infectious disease treatments have the potential to improve the treatment and outcomes for the over 3 billion people worldwide that are impacted by increasingly drug-resistant infectious diseases.

Emmes Corporation is the largest woman-led organization in the BHCR and is headed by Dr. Lindblad, who started her career at Emmes in 1982 as a biostatistician. She has been with Emmes for nearly 40 years, ascending to become VP in 1992, Executive VP in 2006 and ultimately the companys CEO in late summer of 2013.

Dr. Lindblad has published more than 100 publications and presentations has served as a reviewer of grant and contract applications for the National Institutes of Health (NIH) and has chaired or served on Safety and Data Monitoring Committees across multiple disease areas. Emmes is a life science anchor company for the BHCR, employing more than 600 staff globally with its headquarters in Rockville, Maryland.

Under Kings leadership, GlycoMimetics (GMI), an oncology-focused biotech, went public, secured an exclusive global licensing agreement with Pfizer and was instrumental in raising significant amounts of capital for the company. She was also the first woman Chair of Biotechnology Innovation Associations (BIO, 2013-14), where she still plays an active role on BIOs Executive Committee.

A graduate of Dartmouth College and Harvard Business School, King has had a celebrated career in both biopharma and finance. Prior to becoming CEO of GMI, King served as an Executive in Residence for New Enterprise Associates (NEA), one of the leading venture capital firms in the U.S. She has also held the position of Senior Vice President of Novartis-Corporation. King joined Novartis after a remarkable ten year run with Genetic Therapy, Inc. where she was named CEO after helping Genetic Therapy navigate the organization through various growth stages, including the companys sale to Novartis. King was named the Maryland Tech Councils Executive of the Year in 2013, the Top 10 Women in Biotech by FierceBio and has served on multiple boards across her career.

Dr. Connolly has had a pioneering career in the life sciences. She was the very first woman to graduate from Johns Hopkins Universitys Biomedical Engineering Doctoral Program in 1980. She was also a member of the first female undergraduate class entering Stevens Institute of Technology in 1971.

For decades, Dr. Connolly tirelessly worked to build up what is now known as the BHCR. In 1997, shortly before the region gained wider recognition as a biotech hub, she was the first person to be designated the state of Marylands biotechnology representative. Dr. Connollys career has spanned academia, government, and industry, including co-founding a startup and working as the Business Development Director for EntreMed, Inc., an original BHCR anchor company. She is the former Director of Maryland Industrial Partnerships Program (MIPS) and was inducted into the College of Fellows by the American Institute for Medical and Biological Engineering (AIMBE) in 2013.

Dr. Kirschstein played an enormous role in shaping the BHCR as NIH Deputy Director from 1993 to 1999 during the regions early formative years. She also served as Acting Director of NIH in 1993 and from 2000 to 2002. A pathologist by training, she received her medical degree from Tulane University in 1951 and went on to a long, successful career at the Division of Biologics Standards that lasted from 1957 to 1972.

While at the Division of Biologics Standards, Dr. Kirschstein played an important role in testing the safety of viral vaccines and helped select the Sabin polio vaccine for public use. She eventually ascended to Deputy Director of the group in 1972 and was later appointed the Deputy Associate Commissioner for Science at the FDA. In 1974 she became the Director of the National Institute of Medical Sciences at NIH and served in that role for 19 years.

Her awards and accolades are too numerous to list, but one notable honor came in 2000 when she received the Albert B. Sabin Heroes of Science Award from the Americans for Medical Progress Education Foundation.

Lastly, we want to recognize four additional women for their contributions to launching an organization that has impacted thousands of women by promoting careers, leadership, and entrepreneurship for women in the life sciences Women In Bio.

Women In Bio (WIB), one of the most important and influential support organizations for women in the life sciences, was founded in 2002 to help women entrepreneurs and executives in the Baltimore-Washington-Northern Virginia area build successful bioscience-related businesses. WIB started as a BHCR organization but has expanded its footprint to 13 chapters across the U.S. with 225 volunteer leaders and 2,600 members. The non-profit group has created a forum for female life science entrepreneurs and executives based on its core philosophy of women helping women.

WIB founders are Anne Mathias, a local venture capitalist and current Senior Strategist with Vanguard;

Elizabeth Gray, co-founder of Gabriel Pharma and current Partner at Willkie Farr & Gallagher LLP;

Robbie Melton, former Director of Entrepreneurial Innovation at TEDCO and current Director of Kauai County, Hawaiis Office of Economic Development;

and Cynthia W. Hu, COO, and General Counsel at CASI Pharmaceuticals.

In conclusion, we can not fairly capture the true history of life science and the BioHealth Capital Region without giving special recognition to Henrietta Lacks. In 1951 a Johns Hopkins researcher created the first immortal human cell line from cervical cancer cells taken from Lacks. That cell line, known as HeLa, is the oldest and most commonly used human cell line which was essential in developing the polio vaccine and has been used in scientific landmarks such as cloning, gene mapping and in vitro fertilization.

Though she was a black tobacco farmer from southern Virginia, her impact on science and medicine is unquestionable. She never knew that the Doctor took a piece of her tumor that would be used by scientists who had been trying to grow tissues in culture for decades without success. For some reason, that is still unknown, but her cells never died and the first immortal human cell line was born.

Thank you to all of the women who have been so influential in shaping the field of science, the industry of biotechnology and the BioHealth Capital Region.

Steve has over 20 years experience in copywriting, developing brand messaging and creating marketing strategies across a wide range of industries, including the biopharmaceutical, senior living, commercial real estate, IT and renewable energy sectors, among others. He is currently the Principal/Owner of StoryCore, a Frederick, Maryland-based content creation and execution consultancy focused on telling the unique stories of Maryland organizations.

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Twelve Women Who Have Shaped The History of the BioHealth Capital Region - BioBuzz

Coronavirus weekend update: Plans outlined to prepare hospitals for surge in patients – Mountain View Voice

Santa Clara County is working with local hospitals to prepare for an expected surge in coronavirus patients, county Board of Supervisors President Cindy Chavez and Santa Clara Valley Medical Center CEO Paul Lorenz said at a press conference on Sunday.

Lorenz said there are approximately 2,500 hospital beds in the county. Roughly 400 of the beds are dedicated to pediatric care and 350 are for critical care, 75% to 80% of which are currently occupied. Approximately 290 additional beds can be converted to an "ICU level of care," he said.

"If in fact the demand goes beyond our capacity, we are working with the county emergency operations center to come up with a communitywide search plan," he said. "That plan would include looking at all 2,100 adult beds that we can equip and staff for critically ill patients."

Lorenz added that "less acute patients" could then be taken to alternative facilities in the county to free up room at hospitals.

The county is also looking to hire more health care workers and is bringing retired employees back into the workforce. The county can reach out to the state and federal governments for additional staff should that be necessary, Lorenz said.

"We need to have the surge capacity in place as quickly as possible," he said. "We are moving as rapidly as we can. ... All of the hospitals in this county have prepared their own surge capacity plans, and that allows those facilities to ramp up their own facilities beyond what they're currently staffed at.

"I think the most important variable in all of this is to maintain our health care workforce and to grow that workforce ... and the ability for us to equip those hospital beds with ventilators and other necessary equipment. We are also moving very rapidly with the county EOC, the state and the federal government to make sure we have those items in place as quickly as possible."

He said the community has been "really helpful" in following the directions of local health officials, adding that local emergency rooms are now seeing a "much lower volume." Anyone with symptoms of COVID-19 is being asked to call their health care provider or 211 before going to urgent care or an emergency room.

"We were not expecting to have the results so quickly of the emergency rooms not being crowded because people are actually taking those steps, and that's really critical," Chavez said. "We want to make sure we have beds for people who are in the highest need."

Chavez provided another piece of good news: Community members have donated thousands of masks, gowns and other personal protective equipment for health care workers amid a national shortage of such items. The Valley Medical Center Foundation is continuing to collect monetary donations online and protective equipment, which can be dropped off beginning at 8 a.m. Monday, March 23, at the foundation's office on the Santa Clara Valley Medical Center campus, 2400 Clove Drive in San Jose.

Masks and gloves that aren't hospital grade are also needed for local food bank workers, she noted.

Chavez also encouraged those who are healthy and want to volunteer to deliver meals to sign up at

Access a recording of the press conference here.

Santa Clara County

Santa Clara County reported two more deaths and 39 new infections as a result of the coronavirus on Sunday afternoon, bringing the total number of cases to 302.

Chavez said in a press conference Sunday that the ninth and 10th recorded deaths in the county were women in their 60s and 40s, respectively. Both women died Saturday, March 21. The woman in her 40s was hospitalized Monday, March 16, according to the county. Further information was not provided.

Officials also announced in a press release Sunday that Santa Clara County Director of Communications and Public Affairs Maria Leticia Gmez has tested positive for COVID-19.

She became ill on March 13 and received her positive test result on Sunday, March 22.

Gmez agreed to share her health status publicly, according to the press release. She has been isolated at home since March 13.

"The county has instructed all employees, including those who have been in contact with Ms. Gmez, that they should not go to work if they show any symptoms of illness," the county said. "We are also notifying all members of the county workforce with whom Ms. Gmez may have had contact while contagious that they may have been exposed."

Of Santa Clara County's COVID-19 cases, 108 people are hospitalized; 77 are presumed to have been community transmitted; 75 are close contacts of known cases; 22 are associated with international travel; and 10 people have died, according to the county's public health department.

On Saturday, the county reported 67 new cases of coronavirus, which marked the biggest jump in cases in one day for the county.

"This increased case count is not unexpected given community transmission, an increase in provider reporting, and growing testing capacity through the commercial market," according to a county press release.

San Mateo County

As of Sunday morning, March 22, San Mateo County announced seven new COVID-19 cases, bringing its county total to 117, and one death.

Parking restrictions near Windy Hill Preserve

Portola Valley Town Manager Jeremy Dennis issued an emergency order on Sunday that prohibits parking adjacent to the entrances to Windy Hill Preserve's trails on Portola and Alpine roads and Willowbrook Drive, according to a Sunday afternoon email sent out to residents by Mayor Jeff Aalfs.

"Our experiences (including reports from many of you) over the last two days at Windy Hill indicate that not only are some of the trails incompatible with social distancing, the use of our streets for parking and trail entry is creating unsafe conditions as well," Aalfs wrote.

The order will be enforced beginning Monday, March 23, "until the County Order is lifted," he said. There will be increased signage in the affected areas.

Windy Hill, a Midpeninsula Regional Open Space District preserve, is among several local spots that have seen an uptick in visitors in recent days. The National Park Service announced in a tweet Saturday night that it would close multiple gates at Point Reyes National Seashore beginning Sunday, March 22, "after unprecedented visitation."

The open space district reaffirmed Friday, March 20, that its preserves and trails are open to the public with new health and safety measures in place, including: restrooms are closed; areas with high use will be intermittently closed without notice to promote safe social distancing; group gathering areas are closed; and group activities are suspended.

Aalfs noted in his email that town staff "has been in touch with San Mateo and Santa Clara County officials, MROSD officials, the Sheriff's Office, and others in discussion about the use of open space facilities during the current shelter in place crisis," but did not specify whether further measures are being considered at this time.

SAFE farmers market

For three weeks beginning Thursday, March 26, the SAFE (Sanitary Allocation of Food Essentials) Portola Valley Farmers Market will operate from 2 to 6 p.m. at the site of the usual Thursday farmers market, 765 Portola Road, according to an email from the town Sunday.

The market will be pre-order only with drive-thru pickup. Food will be prepacked, and households will be limited to five bags per order. The deadline for all orders will be 7 p.m. the Wednesday before the market, and products for the following week's market will become available online at noon every Friday.

The market will also offer special delivery for residents of the Sequoias retirement community and those in vulnerable populations.

For more information or to pre-order, visit the SAFE Portola Valley Market website.

Menlo Park-based lab to process coronavirus tests from new Hayward center

A partnership with a Menlo Park genetics laboratory firm will allow Hayward to open a dedicated center offering free COVID-19 coronavirus testing on Monday, March 23.

The COVID-19 testing center at the city's fire station at 28270 Huntwood Ave. can handle up to 370 tests a day, "But we don't expect it to get that high," said city spokesman Chuck Finnie.

Tests are intended for those displaying symptoms, first responders, and health care workers with recent suspected exposures to the novel coronavirus.

The intent is "to take pressure off hospital emergency rooms, provide quicker answers for recently exposed first responders and health care workers, and to enhance the region's capacity to suppress new transmissions through isolation after testing," the city said in an announcement Sunday.

"We don't want the wondering and the worried to come they need to stay home," Finnie said. "We want sick people to come."

He added, "It's not a test people are going to want to take unless they have to. It's not pleasant."

The test involves swabbing of nasal cavities and the back of the throat.

Hayward Fire Department firefighter-paramedics will staff the center, with assistance from ambulance company emergency-medical technicians.

"No referral from a medical doctor is required to be screened," the city said.

The center will operate from 9 a.m. to 6 p.m. daily and is free and open to "anyone regardless of where they live or immigration status," according to the announcement.

"We know it's going to be chaotic on the first day," Finnie said.

People will first undergo a two-part screening for illness, which includes fever, cough and/or shortness of breath, and/or other respiratory symptoms.

At an initial drive-up station, people will be asked about symptoms, then either be cleared to leave or sent to a walk-up tent to be screened for illness.

The city has appropriated funding for the center with the hope of reimbursement from county and state public health agencies.

The center is made possible through a city partnership with Menlo Park-based Avellino Lab USA Inc., a company that specializes in "gene therapy and molecular diagnostics with a focus in precision medicine for eye care."

The laboratory will analyze the tests and "Results can be available in as little as six hours or the next day in most cases."

Finnie said Avellino is a civic-minded company that is supplying the tests "at a very, very good price" and is also looking for similar partnerships with other jurisdictions to open additional centers.

He said officials from Fremont were assessing the Hayward center on Sunday.

Menlo fire begins pandemic response unit

The Menlo Park Fire Protection District now has a Pandemic Emergency Response Unit staffed by a two-person team. The unit is tasked with taking calls of suspected COVID-19 cases, according to a press release issued Saturday.

The district recently received seven calls of suspected COVID-19 in one day and expects to see that number go up.

Staff assigned to the unit will utilize the "highest level of Emergency Medical Services" and personal protective equipment. The district said they will aim to minimize contact with whoever may have COVID-19 while on a call to decrease possible exposure to the disease.

They will also be responsible for decontaminating each scene they visit and fire apparatus used on the call to prevent traces of the virus on equipment, clothing and/or the apparatus as outlined by district guidelines.

"We believe that by raising the bar on our personal protective clothing and by putting this new special response unit in place, we can slow or help to hopefully more effectively stop its spread," Chief Harold Schapelhouman said in the press release.

Some fire district personnel have volunteered to serve on the unit, he said.

"The number of our off-duty firefighters grew again today, as yet another Menlo Park Firefighter, the seventh, was home sick and scheduled for testing.

"At some point, we know one of our firefighters will contract COVID-19," Schapelhouman added, "most are not in the risk categories and all are extremely healthy and fit based upon the daily expectations of our profession, but our collective goal is to delay, or stop, spread for as long as possible."

Increasing health care capacity

To create more space at hospitals, Santa Clara County has teamed up with the U.S. Office of Public Health Preparedness and Response to establish a temporary Federal Medical Station at the Santa Clara Convention Center to accommodate up to 250 people, according to a statement issued Saturday. The station will be managed by the federal office to serve patients in need of short-term, subacute care and do not have COVID-19. It will be equipped with beds, supplies and medicines, according to the county.

The station, being developed with federal, state and local agencies, is expected to help make more acute hospital beds available.

Chavez said Sunday that the county is considering other sites besides the convention center for coronavirus response efforts but didn't offer any specific details.

The state can also increase capacity at clinics, mobile health care units and adult day care facilities as part of its COVID-19 response under an executive order issued by Gov. Gavin Newsom on Saturday. In addition, local governments are allowed to work with retired employees in addressing the public health crisis. The order also "reinforces the importance of the delivery of food, medicine and emergency supplies," according to a press release from the governor's office. To read a copy of the order, visit

Reporting violations and fraud

On Saturday, Santa Clara County announced an updated resource for the public to report nonessential businesses they see operating in violation of the shelter-at-home order, which was issued on Tuesday and will last through April 7.

The public can notify the Santa Clara County District Attorney's Office of such breaches at a new phone number, 408-792-2300. Callers can leave a voicemail in English, Spanish and Vietnamese.

Additionally, the U.S. Department of Justice is encouraging people to report suspected fraud schemes related to the coronavirus by calling the National Center for Disaster Fraud hotline at 866-720-5721 or by sending an email to So far there have been reports of individuals and businesses selling fake cures for COVID-19 online; phishing emails from entities posing as the World Health Organization or the Centers for Disease Control and Prevention; malicious websites and apps that appear to share virus-related information to gain and lock access to devices until payment is received; and people seeking donations for illegitimate or nonexistent charities, according to the department.

Shelter at home orders

Last week started off with the announcement of a shelter-at-home order for most of the Bay Area and ended with a similar mandate extending throughout the state, actions taken in response to the growing coronavirus crisis.

On Monday, March 16, public health leaders from six Bay Area counties joined together to announce the shelter-at-home order for their respective jurisdictions. The measure limits the public to essential activities, such as health care operations; businesses that provide food, shelter and social services; and other necessities.

The state followed suit through its own order announced Thursday night by Gov. Gavin Newsom, who pointed to more than 1,030 confirmed cases and 18 deaths across California as factors in the decision.

Bay City News Service contributed to this report.

Find comprehensive coverage on the Midpeninsula's response to the new coronavirus by Palo Alto Online, the Mountain View Voice and the Almanac here.


Follow the Mountain View Voice on Twitter at @MVvoice, Facebook and Instagram at @MVvoice for breaking news, local events, photos, videos and more.

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Coronavirus weekend update: Plans outlined to prepare hospitals for surge in patients - Mountain View Voice

Coronavirus: Hayward to open testing facility – East Bay Times

HAYWARD Officials said they plan to open a city fire station Monday as a site to test people for possible exposure to the COVID-19 virus.

In a statement Sunday, officials said the center at Hayward fire station No. 7, 28720 Huntwood Ave., will help to ease pressure at regional hospital emergency rooms seeking increased foot traffic.

The center will focus on testing first responders and health-care workers, but its biggest purpose is to reinforce the importance of post-testing isolation, city staff said.

Suppression, through isolation after testing, or SIT, as we call it, is an approach that has proven to be most effective in countries on the leading edge of this pandemic, Hayward Fire Department Chief Garrett Contreras said.

Hayward Fire paramedics, supported by ambulance emergency-medical technicians, will run the center everyday from 9 a.m. to 6 p.m., and it will be free to the public without city-resident, doctor-referral or immigration-status barriers.

Those who come will first be screened for illness, including specific symptoms such as fever, cough and shortness of breath, before receiving a nasal-cavity and throat-back swab. Test results are expected back within six hours, or next day at the latest, city staff said.

Menlo Park-based Avellino Lab USA, a gene-therapy and molecular-diagnostics firm, is partnering with the city to open the center, and plans to work with the city to open other testing sites around the Bay Area.

For more information, call its hotline at 510-583-4949 from 8 a.m. to 5 p.m. seven days a week, or visit the citys COVID-19 Web site at

Contact George Kelly at 408-859-5180.

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Coronavirus: Hayward to open testing facility - East Bay Times

How CAR-T Immunotherapy Improves Quality of Life After Cancer Treatment – Healthline

Four years ago, Chuck Colletti, an athletic, gregarious family man from the suburbs of Pittsburgh who had never had any serious health issues, received a diagnosis of stage 4 follicular non-Hodgkins lymphoma.

Soon after, Colletti, 54, began a grueling 7-month chemotherapy regimen that succeeded in putting him in remission.

However, just 7 months after completing the chemotherapy, his cancer came back in a more aggressive form.

At that point, Colletti opted for another traditional regimen of treatment: 4 weeks of Rituxan, a monoclonal antibody.

It didnt work.

A bone marrow transplant was then considered, but Colletti told Healthline that because he had failed two treatments, he was now qualified to enroll in a clinical trial of a new, experimental immunotherapy his doctor mentioned.

It was called chimeric antigen receptor T-cell immunotherapy, better known now simply as CAR-T.

I had been reading about CAR-T. I knew about it and I told my doctor I definitely wanted to do it, Colletti said.

He subsequently enrolled in the Zuma-5 clinical trial of a CAR-T therapy called axicabtagene ciloleucel (Yescarta) from Kite, a Gilead company.

The trial was for the treatment of his lymphoma, which had transformed from follicular lymphoma into diffuse large B cell lymphoma (DLBCL).

The treatment, which came with some brief but serious side effects, has given him a lasting remission.

Im a very positive person. I know how lucky and blessed I am to receive CAR-T. There are many people trying to get it who still cant, said Colletti, who can now enjoy time again with his wife, Brandee, and their daughter, Gabriella.

Colletti is one of a number of people who report that CAR-T therapy not only conquered their cancer, but gave them a better quality of life afterward.

CAR-T involves collecting a persons T cells and genetically engineering them to produce special receptors on their surface that can recognize an antigen on targeted B cells.

The engineered T cells are then infused back into the person to find and attack cancer cells that have the targeted antigen on their surface.

In Collettis case, CAR-T not only gave him what appears to be a lasting remission, it changed his outlook on life.

Doing the CAR-T really made me much more aware of my need to help other people, he said. Not that Im not a compassionate person, but if you had told me 5 years ago that I would be doing public speaking or doing this interview with a journalist right now, well, I was always focused on doing things for work or with my family, just me and my family.

Colletti is now an advocate for his fellow lymphoma patients and for CAR-T, speaking about his cancer journey at Leukemia and Lymphoma Society events, podcasts, and conferences.

He says CAR-T isnt only saving peoples lives, its giving them an emotional boost and greater appreciation of life.

New research supports Collettis contention.

In the study published last month, participants with lymphoma whose disease was effectively treated with a CAR-T treatment called Kymriah reported that their treatment actually improved their quality of life and provided physical, social, and emotional benefits after their treatment was finished.

The study revealed marked improvement in a variety of self-reported quality of life issues.

This study confirms that if you have a long-term remission with CAR-T, your quality of life improves substantially, and in reality most patients return to normal life, said Dr. Constantine Tam, FRACP, FRCPA, a professor at the Peter MacCallum Cancer Centre at the Royal Melbourne Hospital and the University of Melbourne, and an expert in blood cancers.

Tam, an author of the study and member of the research team, told Healthline that the look at the quality of life of CAR-T patients was a companion study to the JULIET clinical trial of tisagenlecleucel (Kymriah) for people with relapsed or refractory DLBCL (r/r DLBCL).

The average age of the trial participants was 56 years and representative of the population with r/r DLBCL in the community. People up to 76 years were included and 23 percent were 65 or older.

The aim of the research, Tam said, was to document changes in quality of life for patients who receive this treatment, which ultimately turned out to be therapeutically effective and hence led to its licensing for r/r DLBCL.

Colletti didnt take part in the study, but he generally agrees with the findings.

I remember how scary it was when I first got that phone call and they told me I had stage 4 follicular non-Hodgkins lymphoma. I know what these patients were feeling, he said.

For me, when I help other people and talk about it, it helps me. I dont sit there in doom and gloom and think about it coming back. I move forward in a positive way. And CAR-T is responsible for that, he explained.

The CAR-T participants were asked questions about their treatment and about CAR-T by the same research team that worked on the JULIET trial in multiple cancer centers in the United States, Europe, Japan, and Australia.

The researchers queried participants on their quality of life using two tools.

One assessed physical, social, emotional, and functional well-being as well as disease- and treatment-related symptoms.

The other looked at the participants physical and social function, health perception, and mental health.

Data was collected before treatment and then again at months 3, 6, 12, and 18 following treatment, unless the participants discontinued participation in the study or their disease progressed.

Out of 108 evaluated participants, 57 achieved a complete or partial response to the treatment.

Baseline scores on participant-reported quality of life outcomes were similar between the total patient population and those who responded to the therapy, but responsive patients demonstrated continued improvement in quality of life measures over time.

Their most significant improvements were in areas of general health, vitality, physical function, and social function.

Many patients with this advanced level of disease become depressed and withdraw, but here patients reported improved functional status, physical capabilities, and ability to interact with people, Dr. Richard Maziarz, a professor of medicine at the Oregon Health & Science University School of Medicine and the studys lead author, said in a statement.

As we progress in our capacity to offer therapies to treat cancers, we have to ask: is it enough to just have our patients in remission or alive, or do we want them to be able to truly live again, and to re-enter society with full function?, he added.

For Colletti, there are a number of ways CAR-T therapy improves quality of life.

He says that for cancer patients, relying on the necessary poisons like chemotherapy and radiation is a double-edged sword.

We are killing the cancer but unfortunately also killing our healthy cells and organs, he said. Having the opportunity to receive CAR-T gives us a treatment that is not only less toxic than traditional regimens, but enables our body to battle this horrible disease from within.

Colletti says that having something inside your body that recognizes the disease cells and kills them is a welcome protocol.

I personally get up every morning thanking God for CAR-T. Knowing that my own body is now in control of my illness and the incredible power it has to keep killing my infected B cells is so reassuring, he said.

Basically having one CAR-T infusion and not months upon months of treatments is a blessing. I have always taken care of my body and now I really think my body is saying, It is time to take care of you, Colletti said.

He adds CAR-T gives him both a physical and emotional boost.

When you know you are an active part of the cure, it gives you such a confidence booster in continuing the fight, both mentally and physically, Colletti said.

It is also much more motivating to keep working on better lifestyle and health practices. When you take all of this and bundle it together, what you get is a more emotional, physical, and mental focus that is sometimes very hard to come by in traditional cancer battles. This is why I feel better about where I am now, he said.

As CAR-T progresses into the next generation and gets more efficient, patients like me will excel because of the knowledge that our own body is part of this solution. Seeing results, feeling results, and hearing complete remission is the ultimate goal. Maybe one day a simple transfusion of your bodys own reengineered cells will be the answer to curing the cancer for good. We can only hope, Colletti said.

Dr. Eric Ostertag, the CEO of Poseida Therapeutics, a San Diego biopharmaceutical company developing next-generation, nonviral gene engineering technologies like CAR-T, says hes not surprised by the positive emotional reaction patients have had to the immunotherapy.

CAR-T is hope for a cure. Its not just a chemo drug that you need to take every few weeks that can have horrible side effects, Ostertag told Healthline. With CAR-T, you can get long-term durable response, or a cure for some indications.

As example, Ostertag points to Byron Jenkins, a Navy pilot who was one of the first multiple myeloma patients in Poseidas clinical trial.

He is ex-military and had played football for [the] Navy. He worked out a lot. He was very fit. But after failing several therapies, he could not get out of bed. He had perhaps only weeks to a few months left to live, and he was getting weaker, Ostertag said.

But Jenkins responded well to CAR-T.

Two weeks later he walked out of the hospital, Ostertag said. Now, almost 2 years later, hes skiing again with his family, surfing, and running sprints with his son.

Ostertag says he doesnt usually get to meet the people who are treated with his companys products.

But he [Jenkins] tracked us down. He flew from the East Coast, the D.C. area, to San Diego unannounced and showed up at our front door to thank us, Ostertag said.

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How CAR-T Immunotherapy Improves Quality of Life After Cancer Treatment - Healthline

2nd person cured of HIV thanks to stem cell transplant – Medical News Today

Researchers in the United Kingdom have confirmed that a stem cell transplant has cured a second person of HIV.

In 2007, Timothy Ray Brown became the first person ever whom doctors declared to be cured of HIV. At the time, they referred to him publicly as the Berlin patient.

His journey toward a cure was not straightforward. After having received an HIV diagnosis in the 1990s, Mr. Brown received antiretroviral treatment the usual course of action for an HIV infection.

However, later on, he also received a diagnosis of acute myeloid leukemia, for which he eventually required a stem cell transplant.

As he was looking for a suitable donor match, his doctor had the idea to try an experiment. He looked for a donor with a specific genetic mutation that made them practically immune to HIV.

Receiving stem cells from this donor, it turned out, not only treated Mr. Browns leukemia but also cured the HIV infection.

Now, as a study featuring in The Lancet shows, another person has officially been cured of HIV, also thanks to a stem cell transplant.

In this second case, the person received a stem cell transplant with cells that did not express the CCR5 gene, which produces a protein that helps the virus enter cells.

The cells without the CCR5 gene were part of a bone marrow transplant, which the person was undergoing as a treatment for Hodgkin lymphoma.

Following the transplant, and at 30 months after the person ceased antiretroviral therapy, doctors confirmed that the HIV viral load remained undetectable in blood samples.

This finding means that whatever traces of the viruss genetic material might still be in the system, they are so-called fossil traces, meaning that they cannot lead to further replication of the virus.

The specialists confirmed that HIV also remained undetectable in samples of cerebrospinal fluid, semen, intestinal tissue, and lymphoid tissue.

We propose that these results represent the second ever case of a patient to be cured of HIV, says the studys lead author, Prof. Ravindra Kumar Gupta, from the University of Cambridge in the U.K.

Our findings show that the success of stem cell transplantation as a cure for HIV, first reported 9 years ago in the Berlin patient, can be replicated.

Prof. Ravindra Kumar Gupta

However, Prof. Gupta emphasizes that [i]t is important to note that this curative treatment is high risk and only used as a last resort for patients with HIV who also have life threatening hematological [blood] malignancies.

Therefore, this is not a treatment that would be offered widely to patients with HIV who are on successful antiretroviral treatment, the researcher goes on to caution.

Commenting on these findings, other researchers involved in the study express the hope that, in the future, scientists may be able to use state-of-the-art gene editing tools as part of interventions meant to treat and cure HIV.

Dr. Dimitra Peppa, who is from the University of Oxford in the U.K. and co-authored the study, notes that [g]ene editing using the CCR5 has received a lot of attention recently.

Nevertheless, she points out, there is still a long way to go before such therapies may become viable.

There are still many ethical and technical barriers e.g., gene editing, efficiency, and robust safety data to overcome before any approach using CCR5 gene editing can be considered as a scalable cure strategy for HIV, she says.

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2nd person cured of HIV thanks to stem cell transplant - Medical News Today

Haunted by a Gene – The New York Times

Year after year for two decades, Nancy Wexler led medical teams into remote villages in Venezuela, where huge extended families lived in stilt houses on Lake Maracaibo and for generations, had suffered from a terrible hereditary disease that causes brain degeneration, disability and death.

Neighbors shunned the sick, fearing they were contagious.

Doctors wouldnt treat them, Dr. Wexler said. Priests wouldnt touch them.

She began to think of the villagers as her family, and started a clinic to care for them.

They are so gracious, so kind, so loving, she said.

Over time, Dr. Wexler coaxed elite scientists to collaborate rather than compete to find the cause of the disorder, Huntingtons disease, and she raised millions of dollars for research.

Her work led to the discovery in 1993 of the gene that causes Huntingtons, to the identification of other genes that may have moderating effects and, at long last, to experimental treatments that have begun to show promise.

Now, at 74, Dr. Wexler is facing a painful and daunting task that she had long postponed. She has decided its time to acknowledge publicly that she has the disease shes spent her life studying and that killed her mother, uncles and grandfather.

There is such stigma, and such ostracization, Dr. Wexler, a professor of neuropsychology at the College of Physicians and Surgeons at Columbia University, said in a lengthy interview. I think its important to destigmatize Huntingtons and make it not as scary. Of course it is scary. Having a fatal disease is scary and I dont want to trivialize that. But if I can say, Im not stopping my life, Im going to work, were still trying to find a cure, that would help. If I can do anything to take the onus off having this thing, I want to do it.

Among her greatest concerns are the thousands of Venezuelans from the families full of the disease, whose willingness to donate blood and skin samples, and the brains of deceased relatives, made it possible to find the gene. But they live in an impoverished region, and, Dr. Wexler said, they are still outcasts. The clinic that she and her colleagues opened has been shut down by Venezuelas government.

We share DNA, Dr. Wexler said. Theyre part of my family. They are super-stigmatized. So I thought, this is part of my decision to come out, about me which I still find hard to do without breaking into tears.

If treatments now being tested do pan out, she said in an editorial in The New England Journal of Medicine, the Venezuelan patients should get them, for free.

Shes a remarkable human being whos been an incredible leader of a scientific initiative, said Dr. Francis Collins, director of the National Institutes of Health, who was among those she recruited to help find the Huntingtons gene.

Although Dr. Wexler has not talked about her diagnosis until now, it is no surprise to friends or colleagues. For at least a decade, her symptoms were noticeable. Her gait is unsteady, her speech is sometimes slurred, her head and limbs move uncontrollably at times. She loses her temper. She needs a walker to get around outside the Manhattan apartment she shares with Dr. Herbert Pardes.

But her mind is sharp and her will is strong, and she has chosen to deal with the disease or not deal with it on her own terms and in her own good time.

Weve been close friends for 37 years and it has been very hard to not have this as a topic we can share, Dr. Collins said. But shes a private person, and I think we all understood she was not ready to go there.

Part of her coming out includes appearing in a new documentary film, The Gene, produced by Ken Burns and Barak Goodman, to air on PBS this spring. Film shot later, not part of the documentary, shows her exuberantly touring a facility that makes an experimental drug being developed by Roche that she is hoping will work and become available in time to help her. The studies she led made development of the drug possible, but she is too old to qualify for the clinical trials testing it. Results are not expected until 2022.

In the film, a researcher shows her a vial of the drug. She kisses the vial and hugs the researcher. Thats my disease there, she says. Youre curing it!

The specter of the disease has been hanging over Dr. Wexler since 1968, when she was 22. One morning, a police officer accused her mother, Leonore, of being drunk as she crossed a street in Los Angeles on the way to jury duty. She had not realized she was staggering.

Leonore Wexlers father and all three of her brothers had died from Huntingtons. She was a geneticist, a field she had chosen in hopes of finding a way to save her brothers, Dr. Wexler said.

Huntingtons is caused by a dominant gene: If one parent has the disease, every child has a 50/50 chance of having it, too. The disease is rare. About 30,000 people in the United States have it, and another 200,000 are at risk. It is the disease that killed the folk singer Woody Guthrie in 1967.

At the time of Leonores diagnosis, there was no test for the gene. People who knew they were at risk could only wait to see whether they fell ill. The symptoms usually appear when patients are in their 30s or 40s after theyve already had children. Leonore was 53 at her diagnosis, past the average.

Depression, irritability and other psychological problems can occur, along with the uncontrolled movements. Patients lose the ability to speak, but remain painfully aware of their decline.

After Leonores diagnosis, her ex-husband, Milton Wexler, told their daughters, Nancy and her older sister, Alice, about the disease and that they were at risk of getting it, too. Despite the odds, he insisted that they would be spared.

But looking back at that day, Dr. Wexler said she felt that, in an instant, three generations had been wiped out: Her mother, herself and the children she had hoped to have. She and her sister decided that they would not have children. To this day, Dr. Wexler said it is a decision that she very much regrets.

Determined to find a cause and cure, or at least a treatment, Milton Wexler started the Hereditary Disease Foundation to raise money and recruit researchers. Nancy, who received a doctorate in psychology, nonetheless decided to devote her career to Huntingtons and its genetics.

Leonore Wexlers condition worsened. She tried to commit suicide, but Milton Wexler saved her by calling an ambulance. Dr. Wexler said she thought her father later regretted that decision, because her mother suffered for years afterward, in nursing homes.

As she became increasingly ill, I dressed her, carried her, helped her brush her teeth and go to the bathroom, fed her and, mostly, held her and kissed her, Dr. Wexler wrote in an essay published in 1991. Her eyes still haunt me with their sadness and fear.

Leonore Wexler died on Mothers Day in 1978, 10 years after the diagnosis.

The following year, Nancy Wexler made her first trip to Venezuela to study a large extended family, first described in 1955 by a Venezuelan doctor, Americo Negrette. The family was thought to have the worlds highest prevalence of Huntingtons disease. She knew that to find the gene, scientists would need DNA samples from as many affected people and their healthy relatives as possible.

The scientists, arriving by boat, found patients everywhere, some of them children, with the classic writhing and flailing signs of the disease, which was known locally as el mal.

Dr. Wexler told them that she and they were related, that her family had the disease, too. She showed them a tiny scar on her arm where shed had a skin sample taken, as she was asking them to do.

I fell in love with them, she said.

For 20 years, she returned with teams that ultimately collected 4,000 blood samples. They traced the path of the disease through 10 generations in a family tree that included more than 18,000 people.

Working with Nancy in Venezuela was a real testament to how an individual can take a team and get absolutely water out of a brick, said Dr. Anne B. Young, a professor and former chief of neurology at the Massachusetts General Hospital, who made 22 trips to Venezuela with Dr. Wexler. She was able to take all of us and drive us, 16 hour days out in the field where it was 96 degrees and 90 percent humidity.

Dr. Wexler was a powerful presence.

She was just totally charismatic, and when you walked into the room she would hug you and look you in the eye and listen to everything you said, Dr. Young said. She never thought about herself. She was always thinking about what she could learn from the other person. People just became totally devoted to her. Everybody felt theyd take a bullet for her.

In 1983, just four years after the first trip, the team found a marker, a stretch of DNA that was not the gene itself but nearby. It took a half dozen high-powered research groups handpicked by Dr. Wexler and her father 10 more years to find the gene itself, on chromosome 4, one of the 23 pairs of chromosomes found in most cells in the body.

The discovery was a landmark in genetics, one that scientists say would never have happened without Dr. Wexler.

Biomedical research wasnt a team sport in the 1980s, not until Nancy got involved, and then it had to be, Dr. Collins said.

Dr. Wexler and her father were relentless, he said, by insisting the research groups work together.

Each group was driven by a strong-egoed principal investigator, Dr. Collins said. You can imagine things didnt always go smoothly. But there was no way you could go to Nancy and say, I cant work with this person.

Milton Wexler had been a psychotherapist to the stars, and tapped some of his celebrity clients to help his cause.

During the annual meetings in Santa Monica, there might be a dinner at Julie Andrews house or Carol Burnetts house, Dr. Collins said. We were all starry-eyed. It was quite a perk for us nerds.

Dr. Wexler brought people with Huntingtons and their family members to the research meetings, to describe what life was like with the disease. Many of the scientists had never seen Huntingtons up close.

You couldnt listen to that as a researcher and not be impressed by the seriousness of the task, Dr. Collins said. This was not some academic exercise.

Concern for Dr. Wexler herself also drove the teams.

We knew the clock was ticking for her and for Alice, Dr. Collins said. It was a matter of watching Nancy all the time and wondering if shes escaped the curse or is it going to fall on her, too.

The gene contains the blueprint for a protein that the researchers named Huntingtin. Its role in the brain is not understood. But in people with the disease, a series of three DNA building blocks represented by the letters CAG is repeated too many times. The repeats lead to an abnormal form of Huntingtin, which poisons nerve cells in the brain.

Finding the gene made it possible to develop a test that could tell people at risk whether they would develop the disease. The discovery posed a wrenching ethical and emotional quandary that persists to this day.

Do people really want to know that a disabling and fatal disease lies in wait for them, when there is no cure, not even a treatment that can slow it down?

Researchers feared that the information would make people hopeless and depressed, and even drive some to suicide.

A breakthrough therapy, making testing worthwhile so that treatment could start early to head off the disease, has yet to arrive.

Given her drive for knowledge, many people assumed that Dr. Wexler would be among the first to take the test. But she never did. Nor has her sister.

I dont think I could have lived with that knowledge, Dr. Wexler said. I think I assumed I wouldnt get it, because I was fine.

It was easier to live with ambiguity, she said, adding, Denial is important.

As she moved through middle age, she felt all eyes were on her and resented it.

Everybody watched me like a hawk, she said.

Gradually, the symptoms appeared. She became aware of them only when she saw herself on video or even in the mirror, and would think, Oh gee, why am I moving? There was no single moment of realization; there were many. It is not uncommon for people to recognize they have the disease only when they see photos or videos of themselves, Dr. Young said.

Every time I saw myself on video, I looked a little bit worse, Dr. Wexler said.

Others noticed the movements, the spilled drinks, the wobbly handwriting.

I love her so much that I had trouble convincing myself that she had it, said Dr. Young, who is an expert on the disease. I would try to make it go away in my mind. And I think a lot of people did.

But some colleagues bluntly asked Dr. Wexler if she had the disease. A few went so far as to tell her she did. She would say she did not, only to be told that denial was a symptom. If she happened to cross her legs, some accused her of trying to hide tremors. She found it infuriating.

Dr. Pardes warned the meddlers to back off. People learned to avoid the subject.

It was always the big elephant in the room, Dr. Young said. It made everything uncomfortable for all her best friends, who just withdraw a little bit because they dont want to hurt her.

Her sister encouraged her to open up.

I think that one thing her coming out about it will show is that getting a diagnosis of Huntingtons disease is not a death sentence, Alice Wexler said. Its something people can live with for a long time, if they have the right medical care and social services. She has been living her life in a productive way, and still will.

And so she is, reviewing grant applications, raising money for research and attending scientific conferences. Dr. Wexler holds out hope for the work on new drugs. There is still much to be learned, she says, and she still has a great deal of work to do.

Enjoy life while you can, she advises. Find what gives you some pleasure and go for it. Dont get kidnapped by this.

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Haunted by a Gene - The New York Times

Penn is fighting pancreatic cancer – Penn: Office of University Communications

Swept up in a pancreatic cancer diagnosis is inevitably a sense of fear and sadness.

But at Penn, researchers are bringing new hope to this disease. And with patients like Nick Pifani, its clear that theyre moving in the right direction.

Pifani, from Delran, New Jersey, first noticed some lingering stomach upset in February 2017. He called his family doctor, concernedespecially given that he was an otherwise healthy marathon runner who was only 42. He was sent to a gastrointestinal specialist. A few weeks later, some crippling stomach pain sent him back to the emergency room and he received an MRI that showed a mass on his pancreasStage Three, inoperable, he was told.

He was treated with chemotherapy, along with radiation and, eventually, and after receiving advice from doctors at Penn, his tumor was removed. Thereafter, he realized he had a PALB2 mutationa cousin of the BRCA gene mutation. At that moment, his long-term needs changed and he found himself seeking specialized care at Penn, where he met Kim Reiss Binder, assistant professor of medicine at the Hospital of the University of Pennsylvania (HUP).

Im a planner; I want to understand what [my] potential options are, Pifani says. [Reiss Binder] asked why I was there to see her and I explained and quickly I could tell she wasoutside of her being remarkably intelligenta great listener and a compassionate doctor.

I have a feeling she worries about me more than I do, he laughs.

Pifani has now been in remission for two years and four months; he sees Reiss-Binder every three months for checkups. His survival story is inspiring and a sign of momentum, even if a world without pancreatic cancer is still frustratingly out of reach.

Pancreatic cancer is the third-leading cause of cancer-related death in the United States, outmatched only by lung cancer (No. 1) and colorectal cancer (No. 2). A person diagnosed with pancreatic cancer is still unlikely to survive past five yearsonly 9%of survivors do, giving it the highest mortality rate among every major cancer.

In short, pancreatic cancer seldom paves the way for optimistic narratives. Some of the hope that has surfaced, though, is thanks to some talent, dedication to the cause, and hard work at Penn.

A key point of progress in the battle against the disease was made in 2002, when former Assistant Professor of Medicine David Tuveson established a standard model for examining human development of this disease in mice. This model has allowed for a reliable way to study the disease and has influenced progress made here at Penn and elsewhere since.

Theres been a burst of activity in translational research, from bench to bedside, explains Ben Stanger, the Hanna Wise Professor in cancer research and director of the Penn Pancreatic Cancer Research Center (PCRC) at the Abramson Cancer Center.

And theres a lot of momentum with community building, a dramatic increase in patient volumes, and a dramatic increase in what we know about the cancer, he says of the status of pancreatic cancer today.

Reiss Binder, meanwhile, explains that one mark of progress at Penn and beyond has been learning about people like Pifani, who have the PALB2 gene, and why they respond differently to treatments than those without it. Platinum-based chemotherapies, for example, are especially effective for people with the PALB2 gene who are battling pancreatic cancer. An ongoing trial at Penn has tested and found some success with using PARP inhibitorstaken orally as an enzyme that fixes single-stranded breaks of DNAas a maintenance therapy in that same PALB2 demographic after theyve had chemotherapy. These are less toxic than chemotherapy for patients with the same mutations.

Its all been slow progress toward better treatments, but there has been progress.

This is the tip of the iceberg for a disease that we historically have treated with perpetual chemotherapy,Reiss Binder says. We owe it to patients to find better options to suppress the cancer but not ruin their quality of life.

The consensus on why pancreatic cancer is so deadly? It just cant be spotted fast enough.

Pancreatic cancer often presents well after it has developed and metastasized, and does so in a way that is not easy to recognize as cancer. Common symptoms include, for example, stomach upset and back pain. And by the time a harder-to-ignore symptom of the cancer surfaces, a sort of yellowing of the skin (a result of a bile duct blockage), its likely too late to stop the cancer in its tracks.

One approach to improved detection being tested at Penn, by Research Assistant Professor of Medicine Erica Carpenter, is a liquid biopsydrawn from a standard blood test. Current means to test for pancreatic cancerimaging through an endoscopic tubeare invasive and expensive, meaning a common liquid test could transform how many cases are detected early.

Carpenter explains that circulating tumor cells (CTCs) can shed from a tumor thats adjacent to the wall of a blood vessel; whats shed then shows up in a blood test. The cells, if detected, can explain more about the nature of the tumor, giving doctors an opportunity to examine characteristics of cancerous cells and decide how to effectively treat a tumor if it cant be surgically removed. It also allows interpretations of disease burden and the effectiveness of medicationsthrough genome sequencingthat imaging does not.

Ultimately, this gives doctors the potential to track the growth of a tumor before its fully developed, all through one tube of blooddetected through an innovative use of technology.

David Issadore, associate professor of bioengineering and electrical and systems engineering in the School of Engineering and Applied Science, has worked since 2017 to develop a chip that detects cancer in the blood, using machine learning to sort through literally hundreds of billions of vesicles and cells, looking for these CTCs. The chip retrieves data and the machine learning developed interprets that data, attempting to make a diagnosis that not only finds pancreatic cancer but also provides information about its progressionand, importantly, whether a patient might benefit from surgery.

Right now, that test has a 24-hour turnaround, he says, but could eventually advance to having a one-hour turnaround. That would be a remarkable mark of progress for discovering the disease earlier when the chip enters a commercial stage.

Pancreatic cancer is a tough disease, and catching it early is hard, Issadore acknowledges. So, we think optimistically but also very cautiously, knowing what a challenging disease its been to make progress on, which is what drew us to the disease in the first place.

Im not an oncologist, he adds, but Im a bioengineer, and people like us who have a different perspective, the hope is we can do something truly [novel] to shift the [state of the disease].

He would eventually like to test the chip in people with other types of cancers, like lung, bladder, and liver.

For now, Penn still uses imaging as the standard of care but Carpenter is confident that blood testing is where were heading, starting with at-risk patients with diabetes and other risk factors.

The most important thing with this would be that when you put a patient on therapy, its good to know as early as possible how likely it is theyre going to respond, she explains. Tumor markers are increasingly valuable because you can avoid toxicity of the therapy, the expense of it, and most importantly you then have the opportunity to put the patient on something that might have more of an effect for them.

The challenge, she adds, is in pancreatic cancer we dont have that many effective therapies.

Another challenge, she adds, is to find the presence of exosomes, small pieces of tumor cells released into the blood stream, which she says are found in abundance among people with pancreatic cancer and could particularly be targeted among people living with diabetes or an intraductal papillary mucinous neoplasm (IPMN). So, at-risk candidates who may not present with the disease currently but are at risk. Several clinical studies and trials are currently taking place at Penn evaluating this.

A related area of interest is determining if people with diabetes, in particular, are developing cancer as part of the diabetes, or developing diabetes from the cancer. Risk factorsdiabetes, genetic markers, etc.continue to be an important area of study with pancreatic cancer.

Immunotherapy is rapidly changing the way patients are treated. And interest in immunotherapy for pancreatic cancer is growing exponentially.

But, its complicated.

We are still learning about the immune system in pancreatic cancer, explains Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the PCRC.

On one hand, we know that inflammation in the pancreas is a driver of pancreatic cancer. But we also know that T cells in the immune system can attack pancreatic cancer, he says.

The challenge that has surfaced is that T cells in patients living with pancreatic cancer are often weakened or slowed down; they dont divide or proliferate very well; and they have a hard time finding the cancer. That makes harnessing them for therapy a challenge. One idea, though, is to engineer ones own T cells (as inCAR T therapy), while theyre still healthy, to detect and kill pancreatic cancer cells.

Penn recently completed a trial in ovarian cancer, mesothelioma, and pancreatic cancer, using CAR T cells engineered to recognize a protein called mesothelin, which is expressed by pancreatic cancer. The team found that the T cells, when injected into the blood of patients, were safe but had limited activity.

These CAR T cells can kill pancreatic cancer in the lab really well. But why they dont do so in patients still remains a mystery, Beatty says.

It does prove that pancreatic cancer evades the immune system extraordinarily well.

Penn investigators have also done work on CD40, a protein expressed in a wide range of immune cells, explains Robert H. Vonderheide, director of the Abramson Cancer Center, who has been working with Mark O'Hara, an assistant professor of Hematology-Oncology, on CD40 therapeutics. Patients are responding to treatment with CD40a protein that activates T cells to work more steadfastly and seek out cancer cells.

It seems to make chemo work better, Beatty explains.

This is a very promising treatment for convincing the immune system to attack pancreatic cancer, Beatty adds, And in the lab, we are finding ways to make it work even better.

The larger idea is to build on a backbone of chemo and CD40 in the future to help coax T cells to work better. Overall, a major thrust of treatment for patients at the PCRC is focused on unraveling ways to use immunotherapy while developing the next-generation of strategies for patients with BRCA 1 and 2 genes who are receiving PARP inhibitors.

The stress of a pancreatic cancer diagnosis can be dizzying. It is, says Pancreatic Nurse Navigator Trish Gambino, a cause to act fast.

We really believe pancreas cancer is a medical emergency much like a heart attack, she says. As a nurse navigator, I try to get newly diagnosed patients with pancreatic cancer expeditiously to the correct provider for staging and treatment.

Because of that, she says, patients are often still digesting their diagnosis while also juggling appointments, choosing a doctor, making decisions about care, settling personal matters, and communicating with insurance companies. Gambino, one of eight nurse navigators hired to put organization and compassion on the frontlines, takes multiple incoming callsas many as fiveper day from people who have been diagnosed and sound shell-shocked.

I get so many of these calls per week saying, Trish, I just went to the doctor and they told me I have a pancreatic mass on my CAT scan. And I dont know what to do, she says. A lot of times patients dont know what they need.

Her job is one of compassion but also pragmatism. She listens and places their concerns in context and individualizes her approach to moving patients in the right direction, laying out all the options and giving them a sense of order and control over their narrative.

It really does take a village to try to get people through this, Gambino explains, noting how overwhelming the cancer experience can be. When you have pancreas cancer, its not just the medical oncologist, the radiation oncologist, the surgeon, the dietician, the social worker, the nurse navigator, the infusion nurses, the nurse practitionerstheyre all there and the response is often Who is everybody? They need someone who can lead the team for them.

She says that Penn is especially well-regarded for its interdisciplinary teamseven factoring in diet and financial wellnessand their ability to act swiftly. Penn, for instance, performs more than 150 pancreatic cancer surgeries per year and is practiced at itnot typical of every hospital and a draw for newly diagnosed patients who are eligible for resection.

Looking ahead, Stanger is optimistic about advances in screening and immunotherapy treatmentparticularly research funded by the Parker Institute for Cancer Immunotherapy, started by Sean Parker, a cofounder of Facebook. Penn is one of 10 sites of major investment for research and was the impetus for the investment in pancreatic cancer.

Hes also encouraged that the research community surrounding pancreatic cancer is collaborative, he says, with many doctors recognizing the enormous challenge of the disease and working together well.

Celebrity diagnoses, like that of Alex Trebek, als0lend some hope in the messaging of how the disease is presented to the world today.

I talk to people almost every day, and when we talk about pancreatic cancer they say, Oh, thats a really bad one, he says. One thing I respect about Alex is he came out and was very forthcoming and he spoke with a great deal of confidence and hope in the medical community and gave a positive message that said, Im going to do my best to beat this.

Pifani, meanwhile, more than two years out from his surgery, is feeling optimistic. Hes mostly resumed a normal lifewith occasional side effects that linger, of course, and scans every six months. He runs marathons and spends time with his wife and kids. And, a member of the Survivor Council at the Pancreatic Cancer Action Network and sponsorship chair for the Philadelphia affiliate, he shows up to community events built around raising awareness of the disease and advocating research and caregiver support.

At Penn, he says, he feels like hes in the right place with his carethat hes in the best hands if something does happen, and recognizing the diseases ongoing presence in his life.

I got a long way to go, he says, but were off to a good start.

Homepage photo: Gregory Beatty, assistant professor of medicine and director of the Pancreatic Cancer Clinical Trials Program within the Penn Pancreatic Cancer Research Center, examines a blood sample.

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Penn is fighting pancreatic cancer - Penn: Office of University Communications

Podcast: A family on the frontier of hyper-personalized medicine – MIT Technology Review

Deep Tech is a new subscriber-only podcast that brings alive the people and ideas in our print magazine. Episodes will be released every two weeks. Were making the first four installments, built around our 10 Breakthrough Technologies issue, available for free.

Three-year-old Ipek Kuzu has an extremely rare genetic mutation that disrupts a protein needed for DNA repair, causing the loss of brain cells. Now shes become only the second person in the world to receive a customized antisense oligonucleotide drug designed to compensate for the DNA mistake by allowing her cells to splice together a functional version of the protein. The drug took Boston-based pediatrician and geneticist Tim Yu only months to create, heralding a new era of individualized genomic medicine. But it cost $2 million to manufacture and testleading to questions about how soon hyper-personalized treatments for rare genetic disorders can be made accessible and affordable. Journalist Erika Check Hayden got to know the Kuzu family, and in this episode she chronicles Ipeks journey, with help from Ipeks father Mehmet and Technology Review biomedicine editor Antonio Regalado.

Show notes and links:

If DNA is like software, can we just fix the code?, from the March/April 2020 print issue, p. 46

Hyper-personalized medicine, from the March/April 2020 print issue, p. 18

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Two sick children and a $1.5 million bill: One family's race for a gene therapy cure, from the November/December 2018 print issue, October 23, 2018

Episode Transcript

Audio ID: This is MIT Technology Review.

Mehmet Kuzu: Around five to six months, they said she has something called ataxia telangectasia. And they said this doesnt have any cure. The initial days were very tough. We were crying all the time. So then after a while, we started investigating what can be done.

Wade Roush: Mehmet Kuzus three-year-old daughter, Ipek, has a rare genetic mutation that could end her life by age 25. But now shes getting a so-called antisense drug that her doctors engineered specifically for her. Which makes Ipek one of the first patients being swept up in a new wave of hyperpersonalized medicine. Journalist Erika Check Hayden wrote about the Kuzu family in the latest issue of Technology Review. And today, she helps us understand where this breakthrough came from, and how soon it might be scaled up. Im Wade Roush, and this is Deep Tech.

[Theme music]

Were right at the beginning of a revolution in individualized genomic medicine. And if you want to know what that revolution sounds like, this is a good place to start.

[Sound of Illumina sequencing machines]

Thats one of the hundreds of high-speed gene sequencing machines at the Broad Institute of MIT and Harvard. Here at the Broads genomics platform in Cambridge there are so many of these machines that the institute can read the equivalent of 30 whole human genomes every 10 minutes.

There arent a lot of research centers with that kind of power. But in many places around the world its now possible to scan a babys full genome for just a few hundred dollars, and locate DNA coding errors that can cause rare conditions like ataxia telangectasia.

Thats how doctors diagnosed Ipek Kuzu when she was just six months old. The mistake in her DNA means her cells cant make a protein called ATM thats essential for DNA repair. Over the long run that causes the loss of brain cells, which means Ipek has some trouble walking and doesnt talk as much as a typical three-year-old.

Today Ipek is receiving an antisense drug made just for her. Its designed to compensate for the DNA mistake and restore production of ATM. Which makes her only the second person in the world to get this kind of treatment. The first was another little girl named Mila Makovec. She has different genetic disorder called Batten disease that causes blindness, seizures, and other neurodegenerative problems. And Mila got her own customized antisense drug starting in 2018.

But to understand how her doctors came up with these two medicines, and why this whole field of hyperpersonalized medicine is so hot that the editors of Technology Review decided to put it on this years list of 10 breakthrough technologies, we first have to jump back a few years, to 2016.

[CNBC Squawk Box news clip]

CNBC male anchor: Ionis Pharmaceuticals, in pre-market trading, is higher. The FDA has approved a drug called Spinraza. Spinraza.

CNBC female anchor: Its not Spine-raza?

CNBC male anchor: Maybe it is. Because its for spinal muscular atrophy. Its the first drug approved to treat the rare and fatal disease.

Wade Roush: Spinal muscular atrophy affects about 1 in 10,000 babies. So its not nearly as rare as Batten Disease or ataxia telangectasia. But Spinraza is literally the key to all of the more recent work to make customized antisense drugs for Mila and Ipek. So lets take a minute to go over how it works.

What made Spinraza a big deal is that it was one of the first successful medicines made using an antisense oligonucleotide. In other words, a customized strand of RNA.

Antonio Regalado: If you can imagine, inside a cell, there's the DNA.

Wade Roush: This is Antonio Regalado, the editor for biomedicine at Technology Review.

Antonio Regalado: And it kind of sends out these messages into the nucleus made of RNA and those are used as the templates to make proteins. And so antisense is a drug that acts at the level of RNA. They're going to stick to that RNA message and they could block it.

Wade Roush: Keep it from being translated.

Antonio Regalado: Keep it from being translated, or modify the translation in some fashion.

Wade Roush: In the cells of healthy people, theres a protein called SMN that helps motor neurons survive and grow. A gene called SMN1 carries the instructions for making that protein, and people with spinal muscular atrophy have a mutation that disables that gene. But it just so happens that human DNA also contains a second copy of the gene, called SMN2. This second copy is typically inactive, thanks to a small error that keeps the RNA message from being spliced together into a proper template. The Spinraza molecule contains a short segment of antisense RNA that prevents the splicing error. And that allows the body to start making the motor neuron protein.

Ionis Pharmaceuticals is the company that makes Spinraza, and they put a lot of work into figuring out how to get their molecule into cells in the brain and the nervous system, where it can do its work.

Antonio Regalado: And they finally mastered it and came up with pretty much kind of a miracle drug for one of these rare brain diseases that affects kids, spinal muscular atrophy. And so from that example, people then said, well, why can't we use antisense for other diseases that are similar?

And what we learned was that there was a doctor in Boston named Timothy Yu, who was an expert in sequencing genomes of sick children. And there was one girl named Mila Makovec. And her parents had come to him. He'd sequenced the genome. And then he just realized, I don't have to stop here. Once I've identified this defect, I don't have to stop. I could potentially make a drug. And so that's exactly what he did.

Wade Roush: It turned out that Milas disease was caused by a splicing error very similar to the one that causes spinal muscular atrophy, except that in Milas case it disrupts a different protein called CLN7. Tim Yus idea was to take the backbone of the Spinraza molecule and attach a customized strand of antisense RNA. With this new business end, so to speak, the drug would enable Milas cells to start making functional copies of the CLN7 protein.

Antonio Regalado: That was probably at that point just the clearest, starkest, most stunning example of this hyper personalized medicine. Because in this case, it was really for one person. So we were very interested in this phenomenon, because it's a reflection of what technology can do. And then in the middle of last year, a pretty prominent journalist, Erika Check Hayden, came to us and she was also interested and wanted to do some work to find the cases, find the families and write more stories about it. And as it developed, we decided, well, let's put this on our list of breakthrough technologies, because it really is. And so Erika ended up writing the piece and she did a lot of work to find the patients. One of the great things she did was to find this Kuzu family, which happens to be right here in Cambridge.

Wade Roush: Erika, could you introduce yourself and tell us a little bit about you?

Erika Check Hayden: Sure. My name is Erika Check Hayden. I'm a journalist based in San Francisco. And I also run the science communication program at the University of California, Santa Cruz.

Wade Roush: When you set out to start reporting this piece, did you feel like it was important to go beyond the first sort of headline-making case of Mila Makovec and look for additional patients who were going through this process to see how broadly applicable the whole idea is?

Erika Check Hayden: I do think that while people have been very impressed by Mila's case and by the drug that Tim Yu made for her, which is called milasen, I think there's also been this question of are we gonna be able to do this for other patients? And if so, you know, who is going to be treatable via this method? And so if I'm going out and finding other families that are hopefully replicating that success, I think is a really important statement about how impactful this approach might eventually be.

Wade Roush: So this is where the Kuzu family comes in. So could you tell us a little bit about them and how you got in touch with them?

Erika Check Hayden: So the Kuzu family, they originally came from Turkey and the father in the family, Mehmet Kuzu, is now a software engineer at Google. And they were living in Silicon Valley when their daughter Ipek was born. And soon after she was born, she was diagnosed with this disease called ataxia telangectasia, which is also called A-T disease. And when that happened, they set about trying to understand if there was anything they could do to treat the disease or slow the disease. And that's what led Mehmet down this path that eventually led him to work with Tim Yu.

Mehmet Kuzu: I sent the genetic report of our daughter. Then he said, oh, there's a potential here, but there are two main problems. He said this might cost around like two million, and the insurance will not cover it. The second problem, it might cause damage because, we have a theoretical idea, but biology is complicated. So at the end of the day, it might be worse than what is expected.

Wade Roush: Right. So for the Kuzu family, while it was obviously bad news that your kid is getting diagnosed with A-T disease, there is this amazing foundation or non-profit led by Brag Margus, the A-T Children's Project, that has all this data and also apparently has some fundraising clout. And they wind up helping to finance a lot of this research and even finance Ipeks treatment.

Erika Check Hayden: Right. And I think that's part of why this particular project was able to move so fast, because Brad Margus and the A-T Children's Project had done a lot of work over the years to fundraise and educate their community about the potential for treating this disease, so that when they found something that he actually thought could work, they were able to raise $1.4 million in a relatively short amount of time to fund the development of this unique drug.

Mehmet Kuzu: I think he understood to the promise of it. And then he agreed to financially support us. But the problem is this money in the pool is coming from many families. So we should have a fair selection. Then they found three kids that young in age, like three, two, two, three, four, with the right mutation type, and they got skin samples from all of them, and tested it. They were able to do it quickly.

Wade Roush: Mehmet can recount all these events pretty calmly. But I think its worth underscoring what a roller coaster the familys been on. The backing of the AT Childrens Project opened a window for Tim Yu to design and manufacture an antisense drug. But the required safety testing is so expensive that only there was only enough money to do that for one patient. There was a two in three chance that Ipek would not be that patient. And even if she did get selected, there was no way to know whether the treatment would be effective. Mila Makovec had been having fewer seizures since she started getting her antisense treatment, but doctors still werent 100 percent sure that it was because of the medicine. On top of all that, there was still the risk of unintended side effects.

Mehmet Kuzu: and then at the end of the day, Ipeks cells responded the best among these three candidates. Now, once we know we are selected, now we concentrate on second issue: do we really want to take this risk of, like, making things worse? And then I thought, like, most probably something good will happen. Of course there is a probability of, a possibility [of failure]. But imagine if that happens: science will learn from this. And her kind of sacrifice, and that would help, too, many other people.

Erika Check Hayden: It's been just incredible over the past few years to meet these families, understand what they're doing, how they're doing it. I've just been really struck by everything they've been able to accomplish. And also the mindset that they bring to this where, you know, you'll talk to, or I will talk to, parents who are doing this for their kids and they've had scientists tell them, 'You've got to be prepared for the possibility that this isn't going to help your kid. You know, you might be doing all of this work on behalf of some other future child. This might not come in time to help your own child.' And they persist and are really driven.

Wade Roush: Ok. So in the same way that Tim Yu helped to create this unique drug called milasen for Mila Makovec, he's created a drug called atipeksen for Ipek. If that drug if that drug works, how will it help Ipek?

Erika Check Hayden: If this drug works, basically what it's going to do is correct the way that Ipek's cells interpret her genetic information so that she will make a functioning copy of the ATM protein. Now, how we will know if this is working is a bit of a tricky question. So, Tim Yu and other doctors are going to try a variety of methods to see if they can tell whether the drug is actually helping her. So, for instance, they will look at things like can they see evidence in Ipek's body that the drug is actually making corrected versions of the protein? They will look for evidence that she isn't declining in the ways that we might expect her to if she wasn't getting treatment to help control her disease. But it might be tricky to tell whether it actually works or not.

Mehmet Kuzu: She had three injections until this point because they are starting with very low dose and escalating itAnd fortunately, we haven't seen any adverse effects in the first three. But like, of course, knowing if this is really working or not, they told us that it will take time. Maybe we need a year to understand if it's really working. But at least we have seen that no bad thing happened. At hospital she's going on the full anesthesia. They're putting on a mask. And after the injection they are taking bloods every four hours, three or four times. These are very stressful for her. She's fighting not to have this mask. She's crying a lot. Uh, but once discharge happens, once we come home, she forgets about everything. She just plays with her toys.

Wade Roush: Right. And this is one of the things you mentioned in your piece. Not only will it be tricky to see whether it's working or not, but we're talking about by definition an n of one study where there's only one patient. So you don't get the kinds of large numbers that help researchers feel more confident that a drug is safe and effective.

Erika Check Hayden: I think what we still don't know very well yet is which diseases are going to be helped most by this approach, or even if any of these individual customized treatments can cure a patient. So if you talk to Mila's mom, Julia Vitarello, she is very convinced that that drug has helped Mila. But I think accumulating that data to the level where we really know that this is a worthwhile approach, you know, that's probably going to take a while.

And to take a step back, I think that's part of the reason why these drugs are only being used right now in patients that have really severe progressive diseases, because you are taking a certain risk by giving a treatment to a patient when you haven't done the kinds of safety testing that we might be used to for a drug that would normally go through an FDA approval process. In fact, there are some people who object to even using the word treatment because we don't necessarily know that these drugs are going to cure the patients.

So in the meantime, I think everybody would like to see far more patients at least be able to try this. And so there's this question as to whether it's only going to be patients who have the resources to raise that money or access that money that are going to benefit. And I don't think anybody wants that to be the case.

Wade Roush: Are there any signs that the drug industry is looking at how to scale up some of these treatments? And, you know, maybe create a pipeline for hyper personalized drugs?

Erika Check Hayden: So we're seeing things like Ionis, their co-founder Stan Crooke has started a foundation called the n-Lorem Foundation that's going to try to develop these treatments for patients. The reason is that developing a drug for one patient that costs millions of dollars and doesn't really have a very large market is not something that's necessarily going to be attractive to a company. But I think people think there is a direction that could evolve where, you know, if the drug industry is better able to manufacture these drug templates or backbones and more easily switch out the part of the drug that's the business end that's doing the targeting of different genetic diseases to where that becomes much more large scale, much more customizable, much cheaper. You know, then you might see a model where this is much more economical, affordable, reimbursed by insurance companies, because right now this is not and obviously that's a major cost barrier.

Wade Roush: Do you think this is a time for patients with rare genetic disorders and families of those patients to feel more hopeful? Or is it just too early realistically for this to affect lots of people who are already suffering from these conditions?

Antonio Regalado: Right. It goes back to the question, should this be a breakthrough technology? Because right now, it's not helping that many people. We're talking about helping one person. Or we're talking about helping two or three very few people. Very few. And that's a strike against the idea, frankly. Like, why? Why should we invest resources into this when it helps so few people? Why should we call it a breakthrough technology? Well, the reason to is, it's sweet. Technically, it's sweet. And it paints a path towards a future where it like you can do a lot more with genetic drugs.

Wade Roush: So you can imagine a future not 100 years away, but maybe 10 years away, where this can be scaled up and broadened out to more patients.

Antonio Regalado: Yeah, absolutely. I mean, will the drugs work? How well will they work? It's kind of an open question. But yeah, we've already gone from one case to five cases next year no doubt it it'll be 10 and then a hundred and then thousands. Most likely. I want to raise something else, which this whole scenario is not fair. Because there's a lot of people with rare diseases and a lot of kids dying of rare disease in every neighborhood and every corner and every precinct of the country, of the world. So who has the opportunity to have this chance?

Wade Roush: Well, who does so far?

Antonio Regalado: Well, it is a very small subset of parents who for whatever reason have the ability to wrap their head around the science, to find where the opportunity is, and to raise quite a lot of money. And this is not bake sale money. This is two million dollars. Three million dollars. You have to really have a way to do that, and it favors people with a big network. That's why we're seeing people, you know, entrepreneurs from Silicon Valley or other people who just for whatever reason, manage to pull it off.

Wade Roush: If this kind of inequity persisted, it would definitely become a huge point of criticism around this whole area of therapy. But maybe you could look at these parents as the pioneers.

Antonio Regalado: Right. Exactly. A lot of the parents will say, well, in addition to trying to help my child, I also want to invest and try and create the process by which everybody else can be helped because they also have a lot of empathy for the next person. The idea is to help everybody. The pathway to doing that is not clear yet.

Wade Roush: All right. Well, whether this is a breakthrough or not, it raises so many interesting and thorny questions that it's perfect fodder for Technology Review.

Antonio: It's definitely a breakthrough, man. It's definitely a breakthrough.

Wade Roush: Okay. Thanks Antonio.

[Theme music]

Thats it for this edition of Deep Tech. This is a podcast were making exclusively for MIT Technology Review subscribers,to help bring alive some of the people and ideas youll find in the pages of our website and our print magazine. But the first four episodes cover our annual 10 breakthrough technologies issue, and were making those episodes free for everyone.

Deep Tech is written and produced by me and edited by Michael Reilly, with editorial help this week from Jennifer Strong. Our theme is by Titlecard Music and Sound in Boston. Special thanks this week to David Cameron, Howard Gelman, Erika Check Hayden, Mehmet Kuzu, Antonio Regalado, and Jane Wilkinson. Im Wade Roush. Thanks for listening, and we hope to see you back here for our next episode in two weeks.

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Podcast: A family on the frontier of hyper-personalized medicine - MIT Technology Review

Former UK-based chef is second person in the world to be ‘cured’ of HIV – Mirror Online

A former chef living in the UK has become the second person in the world to be 'cured' of HIV, according to scientists.

Adam Castillejo has remained free of HIV for two-and-a-half years since he was given ground-breaking therapy at Hammersmith Hospital in west London.

The 40-year-old, who was born in Venezuela but lives in England, received a transplant of bone marrow stem cells that rid him of the AIDS-causing virus.

The donor's DNA carries a gene mutation that makes blood highly resistant to the virus.

His doctor Professor Ravindra Kumar Gupta, of the University of Cambridge, said: "We propose these results represent the second ever case of a patient to be cured of HIV."

American Timothy Ray Brown, now 54, became the first person to be cured of HIV/AIDS in 2011.

He was dubbed "The Berlin Patient" because he lived in the city at the time - and was treated there.

Prof Gupta said: "Our findings show the success of stem cell transplantation as a cure for HIV, first reported nine years ago in the Berlin patient, can be replicated."

Mr Castillejo has received bone marrow stem cells for the past three years from a donor who carries a rare gene called CCR5 that stops HIV in its tracks.

He has also spent 18 months without taking anti-retroviral drugs - the medication that controls the virus and stops it progressing.

Mr Castillejo told the New York Times he was in a "unique and very humbling position."

He said: "I want to be an ambassador of hope."

As a young man, he made his way first to Copenhagen and then to London in 2002 he was found to be HIV positive in 2003.

Reporting his case in The Lancet HIV, Prof Gupta says long-term follow-up "suggests no detectable active HIV virus remains in the patient."

He added: "Although the treatment is high-risk and only suitable for certain patients, the results provide evidence this patient is the second to be cured of the virus - replicating the finding that HIV cure is possible through stem cell transplantation."

Prof Gupta pointed out Mr Castillejo and Mr Ray Brown were given stem cells to treat cancer, not HIV.

Stem cell and bone marrow transplants are life-threatening operations. Dangers lie in the patient suffering a fatal reaction if substitute immune cells don't take.

Medication that lowers the virus to an undetectable level is a safer option for those living with HIV.

Prof Gupta said: "It is important to note this curative treatment is high-risk, and only used as a last resort for patients with HIV who also have life-threatening haematological malignancies.

"Therefore, this is not a treatment that would be offered widely to patients with HIV who are on successful anti-retroviral treatment."

But the successes shed light on how a more widely applicable cure might be developed in the future, say the team.

Mr Castillejo has a healthy number of immune cells, suggesting he has recovered well.

What's more, 99 percent are derived from the donor's stem cells, indicating the transplant had been successful. This suggests a "99 percent probability of cure," said the researchers.

But Mr Castillejo will need continued, but much less frequent, monitoring for re-emergence of the virus.

Co-author Dr Dimitra Peppa, of the University of Oxford, said: "Gene editing using the CCR5 has received a lot of attention recently.

"The London and Berlin patient are examples of using the CCR5 gene in curative therapies outside of gene editing.

"There are still many ethical and technical barriers - for example gene editing, efficiency and robust safety data - to overcome before any approach using CCR5 gene editing can be considered as a scalable cure strategy for HIV."

Some 37 million people worldwide are currently infected with HIV and the AIDS pandemic has killed around 35 million people worldwide since it began in the 1980s.

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Former UK-based chef is second person in the world to be 'cured' of HIV - Mirror Online

Berks County mother fights insurance companies to cover $2 million gene therapy drug for son – KESQ

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WERNERSVILLE, PA (WPMT) A Berks County mother is battling with insurance companies to get her son the treatment he needs. Doctors have prescribed the toddler the most expensive drug in the world. Yet, his insurance companies deny coverage.

What is my childs life worth to you, asked Jacqueline Brewer, of Berks County.

Brewer has been in a fight with her almost two-year-old son Johns insurance companies for nine months.

Were not giving up, said Brewer.

John was a happy, healthy baby for the first six months of his life.

He was drinking from a bottle, he was nursing, he was great until he picked up a viral infection, said Brewer. it was just a simple cold.

A cold that took a turn for the worse very quickly, appearing to trigger something even worse in John.

Being in the ICU and being intubated and the doctors coming in and saying were going to do more tests and more tests and more tests and theres still nothing coming up, said Brewer. And then they said theyd like to do a genetic panel.

The genetic panel revealed John has spinal muscular atrophy, also known as SMA. Its a muscle wasting disease caused by a mutated chromosome gene.

It goes on and on and on until he basically cant move, said Brewer. He wouldnt be able to move his tongue. His diaphragm would no longer work. And its terrifying.

Johns been receiving a drug called Spinraza every four months, it helps build the proteins his body needs.

Its a little much, it takes a toll on him, said Brewer. Hes getting a stronger. Now, hes able to hold his head up a little bit.

Spinraza has a price tag of more than $100,000 per injection and is covered by Johns insurance. But, since May of 2019, theres something new on the market.

Now theres Zolgensma. Thats the one we need and that would stop the regression, said Brewer.

Zolgensma is the most expensive drug in the world, with a $2.1 million price tag, but John would only need to receive it once. The one-time treatment is actually less expensive than receiving Spinraza for five years.

It would stop where hes at, said Brewer. He would never get any worse and thats what we need.

Yet, insurance companies Aetna and Ameri-Health have continuously denied coverage of the drug.

Every doctor he comes across is saying its medically necessary for this child to have it but theyre [insurance companies] saying no, said Brewer.

Brewer has continued to receive denials letters from Johns insurance companies all saying the same thing: The request for Zolgensma was denied completely because we are not able to establish medical necessity.

Theyre saying its not medically necessary because hes already being supported, said Brewer. Hes already on a ventilator and the Spinraza injections are enough.

But, Brewer says other children with advanced stages of SMA with other insurance providers have been approved for Zolgensma.

Time is also running out for John to receive Zolgensma. The FDA only approved it for children under two-years-old. John turns to March 24th.

Its terrifying because what if they say no and dont budge and hes gonna turn two and theyre not going to budge, said Brewer. But, Im still going to call everyday, his doctors are still calling everyday, they will do everything they can. Were not going to give up. Even if he turns 2, Im not going to give up.

Brewer says she will continue to fight Johns insurance companies every single day, and if he doesnt receive the drug before he turns two, shell look for clinical trials to somehow get John this drug.

I need to know what this innocent childs life is worth, said Brewer

Please note: This content carries a strict local market embargo. If you share the same market as the contributor of this article, you may not use it on any platform.

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Berks County mother fights insurance companies to cover $2 million gene therapy drug for son - KESQ

Retired attorney with rare muscular disease FHSD connects with others and accelerates search for cure – TribLIVE

Mark Christman resented being thought of as a wimp.

As a kid growing up in Indiana Township, hed always felt more like a tough guy, with the inner tenacity, drive and work ethic of a competitive athlete. Christman loved playing sports, but getting picked last on nearly every team was frustrating.

Around age 14, tasks like running laps and picking up a shovel to clean up after the family horse became unnervingly difficult. Hed lift weights for months and gain little to no muscle. And despite being relatively skinny, he had a small pot belly protruding from one side of his stomach.

In 10th grade, Christman joined the wrestling team at Fox Chapel Area High School. He got bigger but not stronger. He couldnt keep up.

He wondered what could be wrong with him.

Several months later, Christman rode the family horse without a saddle. The horse darted off at full speed, knocking him off while tangling his arm in the reins. He told his doctor about other issues the worsening weakness in his arms and legs, his lopsided belly and winged shoulder blade. The doctor sent him to a neurologist.

At age 16, Christman got a diagnosis he didnt know hed been waiting for.

Christman had been born with facioscapulohumeral disease, or FSHD, a rare form of muscular dystrophy that affects about 1 in 8,000 people. A genetic defect causes the overproduction of a protein that kills muscle cells.

The diseases severity can vary widely, from causing total blindness, hearing loss and leg and arm immobility, to people who show few to no symptoms. It has no known cure.

My parents had a really tough time with it, recalled Christman, now a 59-year-old retired business attorney, Whitehall zoning board member and board member of Trib Total Media. For me, I was almost relieved to know: OK, now I know what this is.

I grew up thinking I was a wimp, and I know Im not.

A disease with no cure yet

Christman didnt let the progressive disease get in the way of cultivating a successful professional and personal life.

After marrying his college sweetheart and passing the bar exam, he embarked on a decades-long career in business law while adapting to overcome challenges along the way, from getting around the office and climbing stairs to opening drawers and filing paperwork.

He appreciated the support of his wife, Renee, an elementary school ESL teacher, along with colleagues and strangers who stopped to help him get on the elevator, reach an item on a shelf or get up from a fall. After he opted for a wheelchair, his father drove him from the South Hills to his law firms office every day from 2002 until his retirement in 2015.

But Christman couldnt help feeling misunderstood.

Hed smile politely but felt irked when even close friends asked him, Hows your MS? in reference to an entirely different, nerve-related disease, multiple sclerosis.

A room full of strangers, a room full of friends

For 41 years, Christman never met anyone else who had the same disease as he did. A 2014 event in Boston changed that. At the FSHD Societys Connect Conference, he recalled feeling overcome with emotions when he encountered hundreds of people with varying levels of the FSHD.

The FSHD Society is a nonprofit advocacy and research grant-making group based in Lexington, Mass.

Christman, whos typically an introvert at large gatherings, still gets teary-eyed remembering it.

It was a room full of strangers, and I felt like they were my friends, he said.

Until that cathartic moment, Christman said hes not sure even he realized how isolated hed felt.

My wife is just the best thing that ever happened to me in my life, and I love her dearly but I still felt alone, he said. Everyones experience of the disease is different. But having someone whos shared some of your experiences is a really special thing.

Christman is on a mission to share that gift of connection and empowerment to others across Western Pennsylvania and neighboring states. Last year, he formed Western Pennsylvanias first chapter of the rapidly burgeoning FSHD Society. The organization hopes to accelerate getting promising treatments that could halt the diseases progression to market in as soon as five years.

Christman is searching for more participants and their loved ones to join the group, with at least four dozen believed to be living in the Pittsburgh area.

I want to maybe help other people have that same experience that I had meeting people, said Christman, but also do something to raise money and push this along to find a treatment and a cure.

Christman held the chapters first meeting in June at the National Aviary in Pittsburghs North Side. Seven people attended, including two people with FSHD and their spouses. He expected everyone to want to know the latest research and tips for practical things to make life easier, like how to get an insurance company to approve a more sophisticated, joystick-controlled scooter like his.

Instead, a former coal miner told the group how hard it was for him when he was diagnosed, and a former Aviary employee lamented that her condition forced her to stop working.

All anyone wanted was to talk, Christman said. It was all about sharing.

If you really loved her, you wouldnt marry her

Christman sees the group as a chance for people to discuss things that those who dont know of the disease cant relate to, including its emotional and psychological toll.

Like how his wifes parents reacted when he proposed.

They went on a campaign to stop her, Christman said. They were worried that I wasnt going to be able to support her, and that she was going to have a terrible life. They got me aside and said if I really loved her, I wouldnt marry her.

The week of the wedding, Renees parents called and asked to attend, and did.

They never said anything again, and theyve since apologized, said Christman, adding hes gotten along well with his in-laws ever since. They know they were wrong.

At a recent FSHD event, Christman met a man who feared his children would think less of him for having the disease. Christmans now-adult son reassured the man that wouldnt be the case, that to his kids hed just be dad.

Christman said he may not have been able to play catch, but he made plenty of time to be actively involved in the lives of his three children and never felt like he let them down because of his condition. One of his daughters is a registered nurse, the second is a Hasbro engineer. His son is a teacher.

Theres a 50/50 chance of passing on the gene to a child. But some people have the disease and show few or no symptoms. Christman hasnt identified anyone in his family known to have it.

As a lawyer, Christman sometimes wondered whether his visible physical handicap impacted his clients perception of his mental capabilities.

He wasnt sure whether colleagues thought of him as overly grumpy because of partial facial muscle loss that gives him a half-frown resting face and slightly crooked smile. Hes grateful he hasnt lost his ability to smile, like many people with FSHD do.

Finding patients, expediting treatments

Once the disease gets too far along, the muscles disappear, and theyre replaced by, essentially, scar tissue, said Dr. Paula Clemens, Christmans UPMC neurologist. Once that happens, theres not really a lot of hope in treatments, unless you were to come up with a treatment that would make new muscle, such as by using stem cells an idea thats still a long way from materializing.

The FSHD Society is hoping to expedite the approval of a pill that could stop the disease from getting worse. Formed in 1991 by two patients who have FSH muscular dystrophy, the FSHD Society has focused primarily on raising money for research.

In 2014, newly hired CEO Mark Stone decided that to help expedite the development and approval of newly emerging treatment options, they needed to form local chapters in as many places as possible and get more patients involved and aware of clinical trials.

An estimated 40,000 Americans live with FSHD. But the society is only aware of about 3,500 of them. People may be living with it and not have a formal diagnosis, either because they havent sought one or their doctors havent recognized it.

This is a disease where youve got to also have a very active community, branch coordinator Beth Johnston said, so that if treatments do come to light, they do get to people and you have a disease community who can support it.

The society now has 48 local chapters in 24 states. Its goal is to raise $5 million toward treatment efforts this year.

In addition to providing education and support groups, the society is working directly with medical researchers and officials at the Food and Drug Administration to lobby for expediting clinical trials that appear promising.

Theyre helping us to understand how to accelerate the process that they have in order to get the drugs on the market, Johnston said. Weve got to activate our community. This is such a critical time in therapy development, its super important.

You just adapt

Christman continues to struggle with some tasks on a daily basis, but he has managed to work around his limitations.

You just adapt, he said.

These days, his wife helps him shower and get dressed.

His dad, 85, still drives him to Giant Eagle.

He loves using his iPad and other devices that are operated via voice control, since he has trouble punching keyboards or touch screens with more than one finger. He has a hard time lifting his hands, so hell lean in to do so instead. He can move his right leg to the side, but cant extend it forward.

Alexa, tell Delta to pour one cup water, hell say to the Amazon device beside the kitchen sink that controls the hard-to-reach faucet.

Hes thankful for the work of Carnegie Mellon University students who helped to build him a special tool to use the oven.

A few months ago, Christman and his wife completed a full kitchen renovation that includes an oven with a door that opens sideways as opposed to outward, plenty of reachable cupboard space and a special pull-out feature for him to use his Kitchen Aid mixer.

He has a passion for cooking, especially baking bread. His Whitehall homes bookshelves are stocked with titles like The Bread Bakers Guide, Baking with Julia, Bernard Claytons New Complete Book of Breads and, for meals with an extra kick, The Sriracha Cookbook.

I love it when he cooks dinner with me, said Renee Christman, recalling a recent meal featuring her husbands homemade pizza crust.

In addition to his municipal and board roles, Christman enjoys taking courses through the Osher Lifelong Learning Institute at CMU. Some of his favorites so far include the masters of architecture, the role of food in history, psychology of decision-making and a course on cybercurrency. Hes participating in a CMU pilot project to build more accessible video games.

Even though its getting tougher, hes determined to do tasks like putting on his own coat for as long as he can.

My theory is, if I just let someone else do it all the time, Im not going to be able to do it anymore, Christman said.

But Christman said hes also getting better at accepting help when he needs it. He regrets delaying getting a wheelchair for years, only to realize how much more freedom it gave him.

I want to empower patients, because a lot of people dont know a lot about their disease and whats happening to them, he said. They want to learn and be with people who have gone through similar things. They want to tell their story.

The next meeting of the FSHD Societys Western Pennsylvania chapter is scheduled for 1 to 3 p.m. April 5 at the Carnegie Library branch in Pittsburghs Squirrel Hill neighborhood. For more information, go to, email or visit the group on Facebook.

Natasha Lindstrom is a Tribune-Review staff writer. You can contact Natasha at 412-380-8514, or via Twitter .

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Retired attorney with rare muscular disease FHSD connects with others and accelerates search for cure - TribLIVE

FDA Grants Breakthrough Therapy Designation for Genentech’s Esbriet (pirfenidone) in Unclassifiable Interstitial Lung Disease – Business Wire

SOUTH SAN FRANCISCO, Calif.--(BUSINESS WIRE)--Genentech, a member of the Roche Group (SIX: RO, ROG; OTCQX: RHHBY), today announced that the U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation to Esbriet (pirfenidone) for adults with unclassifiable interstitial lung disease (uILD). The designation was granted based on data from a Phase II trial, which studied the efficacy and safety of Esbriet in uILD. The study represented the first randomized controlled trial to exclusively enroll patients with progressive fibrosing uILD.

Todays milestone for Esbriet builds on our continued commitment to improving the standard of care for people living with fibrotic lung diseases, said Levi Garraway, M.D., Ph.D., chief medical officer and head of Global Product Development. We look forward to discussing the data with the FDA with the hope of bringing our important medicine to those with uILD who are currently without a treatment option.

ILD is a term that broadly describes a diverse group of more than 200 types of rare pulmonary diseases. While ILDs share similar features, including cough and shortness of breath, each ILD has different causes, treatment approaches, and outlooks. Approximately 10% of people living with ILD reviewed by a multidisciplinary team cannot be given a definitive diagnosis, even after a thorough investigation, and in these cases, people are categorized as having uILD.

The Phase II data supporting Breakthrough Therapy Designation were recently presented as a late-breaking abstract at the 2019 European Respiratory Societys annual meeting and simultaneously published in The Lancet Respiratory Medicine. The data suggested Esbriet slowed disease progression and supported its efficacy on a number of lung function parameters including forced vital capacity (FVC), in people with uILD. The safety and tolerability profile of Esbriet in people with uILD was comparable with that observed in Phase III trials in people with idiopathic pulmonary fibrosis (IPF).

Breakthrough Therapy Designation is designed to accelerate the development and review of medicines intended to treat serious or life-threatening conditions with preliminary evidence that indicates they may demonstrate a substantial improvement over existing therapies. This is the 33rd Breakthrough Therapy Designation for Genentechs portfolio of medicines.

About the Phase II Study

This international, multicenter, double-blind, randomized, placebo-controlled Phase II trial at 70 centers included patients (aged 18-85 years) with progressive fibrosing uILD, a percent predicted forced vital capacity (FVC) of 45% or higher and percent predicted carbon monoxide diffusing capacity (DLco) of 30% or higher, more than 10% fibrosis on high-resolution CT, and a high-resolution CT from the previous 12 months.

The primary endpoint was mean predicted change in FVC from baseline over 24 weeks, measured by daily home spirometry. Secondary endpoints were change in FVC measured by site spirometry, proportion of patients who had a more than 5% or more than 10% absolute or relative decline in percent predicted FVC measured by clinic-based spirometry, change in percent predicted DLco, change in 6-min walk distance (6MWD), change in University of California San Diego-Shortness of Breath Questionnaire (UCSD-SOBQ) score, change in Leicester Cough Questionnaire score, change in cough visual analogue scale, and changes in total and subscores of the St. George's Respiratory Questionnaire (SGRQ), all of which were compared with baseline.

Analysis of the primary endpoint was affected by intraindividual variability in home spirometry values, which prevented application of the prespecified statistical model to the primary endpoint assessment. Over 24 weeks, predicted median change in FVC measured by home spirometry was -87.7 mL (Q1-Q3 -338.1 to 148.6) in the pirfenidone group versus -157.1 mL (370.9 to 70.1) in the placebo group. Over 24 weeks, predicted mean change in FVC measured by site spirometry was lower in patients given pirfenidone than placebo (treatment difference 95.3 mL, p=0.002). Results for DLco and 6MWD generally trended in favor of pirfenidone treatment. Adverse event reporting reflected the known safety profile of pirfenidone. The most common treatment-related treatment-emergent adverse events were gastrointestinal disorders (47% in the pirfenidone group vs 26% in the placebo group), fatigue (13% vs 10%), and rash (10% vs 7%). Pirfenidone treatment was associated with less loss to lung function and exercise capacity compared with placebo over 24 weeks. The results of this study suggest that patients with progressive fibrosing uILD may benefit from pirfenidone therapy.

About Esbriet

Esbriet is an oral medicine approved for the treatment of IPF and is available in more than 60 countries worldwide. Esbriet was approved for use in Europe in 2011 in adults with mild-to-moderate IPF and in the U.S. in people with IPF in October 2014. In early 2017, the U.S. Food and Drug Administration (FDA) approved the Esbriet 801 mg and 267 mg tablets as new options for administering the medicine for the treatment of IPF. The 801 mg tablets, which are now available in the U.S., offer people with IPF a maintenance option for taking Esbriet with fewer pills per day.

What is Esbriet?

Esbriet is a prescription medicine used to treat people with a lung disease called idiopathic pulmonary fibrosis (IPF).

It is not known if Esbriet is safe and effective in children.

Select Important Safety Information

Before you take Esbriet, tell your doctor if you:

What are the possible side effects of Esbriet?

Esbriet may cause serious side effects, including:

A healthcare provider may change the dose or discontinue Esbriet if side effects do not go away.

The most common side effects of Esbriet include upper respiratory tract infections, feeling tired, headache, dizziness, loss of appetite, sinusitis, insomnia, or weight loss.

These are not all the possible side effects of Esbriet.

What should patients avoid while taking Esbriet?

Patients should call their doctor for medical advice about side effects. Patients may report side effects to the FDA at 1-800-FDA-1088 or or to Genentech at 1-888-835-2555.

Please see full Prescribing Information, including Patient Information, for additional important safety information at

About Genentech

Founded more than 40 years ago, Genentech is a leading biotechnology company that discovers, develops, manufactures and commercializes medicines to treat patients with serious and life-threatening medical conditions. The company, a member of the Roche Group, has headquarters in South San Francisco, California. For additional information about the company, please visit

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FDA Grants Breakthrough Therapy Designation for Genentech's Esbriet (pirfenidone) in Unclassifiable Interstitial Lung Disease - Business Wire

Drugmakers Have Long Insisted Reports On Skyrocketing Rates Don’t Take Into Account Rebates. Study Shows It Doesn’t Matter. – Kaiser Health News

Read about the biggest pharmaceutical development and pricing stories from the past week in KHN's Prescription Drug Watch roundup.

Stat:Drug Prices Rose Three Times Faster Than Inflation, Despite DiscountsAmid intensifying anger over the rising cost of medicines, a key piece of data has been missing from the debate the actual prices after accounting for rebates and discounts offered by drug makers to payers. Now, a new analysis has come up with some numbers and the results are illuminating: Over a recent 11-year period, net prices for hundreds of drugs rose 60%, which was 3.5 times the inflation rate. (Silverman, 3/3)

Medscape:Drug Prices In US Continue To Soar; Are Profits Too High?Three studies and two editorials in Journal of the American Medical Association tackle the issue of the relentless rise in prices of new drugs and ask: Is the pharma industry making too much profit? (Nelson, 3/3)

The Washington Post:Why Facebook Is Filled With Pharmaceutical AdsJordan Lemasters keeps seeing ads in his Facebook app for an attention-deficit/hyperactivity disorder drug called Vyvanse. When the Chicago-based audio branding consultant recently clicked on the ads drop-down menu and selected Why Am I Seeing This Ad, a pop-up said it was because of his age range, because he lives in the United States and because he may have visited But Lemasters felt spooked. The 29-year-old had used another ADHD drug, Adderall, but never publicized it. The ads just felt invasive, says Lemasters, who says he quit Adderall in 2017 because it made him feel like a zombie. What bothers me is how powerful those drugs are and how its pushed, rather than a doctor actually assessing a patient and suggesting a proper solution." (Tiku, 3/4)

The Wall Street Journal:Insulin Giant Aims To Unlock Elusive Obesity-Drug MarketThe worlds biggest insulin maker is betting it can unlock a multibillion-dollar market that has largely eluded the drug industry: obesity. Denmarks Novo Nordisk makes one of the worlds few approved drugs aimed specifically at battling obesity, but weight-loss treatments are typically a tough sell. Many doctors are convinced that lifestyle changes, not drugs, are a better answer. The sector is also relatively new: Obesity was first recognized as a disease by the American Medical Association in 2013. Many insurers still dont cover obesity drugs, and some previous treatments didnt win approval or were withdrawn from the market after problems arose. (Roland, 3/3)

Stat:One Woman's Complicated Journey To A Canada All For Cheaper InsulinJust after Emma Kleck turned 26, she started looking up flights to Canada. Kleck, who has type 1 diabetes, knew shed be paying a hefty sum each year for the test strips, body sensors, and insulin vials she needs to manage her disease once she switched from her parents insurance to the high-deductible plan her job offers. She was determined to see if she could find a cheaper option. (Florko and Jaques, 3/4)

Reuters:Two In Five U.S. Diabetics Struggle With Medical BillsMany working-age U.S. adults with diabetes struggle to pay their medical bills, according to a study that suggests health insurance offers inadequate protection from financial hardship. Among adults under age 65 with diabetes, 60% of those without insurance struggled to pay for care, as did 40% of people with coverage. (Rapaport, 3/3)

The CT Mirror:Lawmakers Rally Support For Wide-Ranging Drug BillBolstered by national efforts and the financial concerns of their constituents, legislators are pushing a measure that includes several provisions aimed at capping or lowering the price of prescription medication. The sweeping drug billfeatures a plan to import medicine from Canada, a proposal to cap the monthly cost of prescription pharmaceuticals at $250 for people with fully insured health plans, a ban on pay to delay a practice that postpones the introduction of cheaper, generic drugs into the market, and a prohibition on mid-year changes to drug formularies. (Carlesso, 3/4)

Reuters:U.S. Sues Mallinckrodt, Accuses Drugmaker Of Defrauding MedicaidThe United States sued a unit of the drugmaker Mallinckrodt Plc on Tuesday, accusing it of defrauding Medicaid out of hundreds of millions of dollars as a result of "meteoric" price increases for its biggest-selling drug, Acthar Gel. Joining a civil whistleblower lawsuit filed in Boston federal court, the government said Mallinckrodt ARD LLC violated the federal False Claims Act by withholding Medicaid rebates related to Acthar, which now costs nearly $40,000 per vial. (Stempel, 3/3)

Stat:Mallinckrodt Sued Over 'Hundreds Of Millions Of Dollars' In Medicaid RebatesA simmering feud between the federal government and Mallinckrodt (MNK) took a new turn as the Department of Justice filed a lawsuit accusing the company of deliberately underpaying hundreds of millions of dollars in Medicaid rebates, which were tied to the price of its most important medication, the Acthar Gel treatment. Under federal law, drug makers are required to pay quarterly rebates to state Medicaid programs in exchange for coverage of their medicines. These rebates include a provision that is designed to insulate the programs from price hikes that outpace inflation, and companies must pay rebates based on 1990 pricing or whenever a medicine was first marketed. (Silverman, 3/3)

Reuters:Gilead Buys Forty Seven For $4.9 Billion To Bolster Cancer Drug PipelineGilead Sciences Inc said on Monday it would buy Forty Seven Inc for $4.9 billion in cash, adding an experimental treatment that targets blood cancer to its portfolio of oncology drugs. Shares of Forty Seven jumped 62%, trading slightly below the offer price of $95.50 per share. Gilead shares were up 2.3% at $70.95 in early morning trading. (Mishra and Roy, 3/2)

The Wall Street Journal:Gilead Sciences To Buy Forty Seven For $4.9 BillionThe deal is the first major outright acquisition under Gilead Chief Executive Daniel ODay, who took over the company a little over a year ago with a mandate to jump-start sales growth and turn around the companys sagging stock price. The transaction will deepen Gileads pipeline of cancer drugs. Gilead, based in Foster City, Calif., is grappling with a sharp decline in revenue from its hepatitis C drug franchise and the threat of generic competition to its HIV drugs. (Walker, 3/2)

Stat:These 4 Startups Got Venture Funding A Year Ago. Where Are They Now?Every quarter, the CEO of a public biotech company can expect to spend an hour or two on the phone, describing her companys progress to shareholders and reporters and answering questions from analysts. But CEOs of early-stage, privately held biotech companies are allowed to play their cards much closer to the vest. There are no earnings calls or SEC filings; these CEOs can choose when to update the world with a press release or an interview. (Sheridan, 3/2)

Stat:This Biotech Went Public During The Stock Markets Worst Week Since 2008Concerns about the coronavirus outbreak made last week one of the markets worst since the 2008 financial crisis. But Philadelphia-based gene therapy company Passage Bio (PASG) still launched its initial public offering in the middle of that mess and the company did just fine. (Sheridan, 3/4)

Stat:TG Therapeutics Cops To Another Blood Cancer Drug Trial Delay, As Excuses Wear ThinTG Therapeutics (TGTX) on Tuesday delayed yet again the readout from its most important blood cancer clinical trial. And like the previous delay of study results disclosed in September 2018, the biotechs CEO is papering over the very real risk of failure. (Feuerstein, 3/3)

Bloomberg:Health-Care Banker Chris Hite Leaves Citi For Royalty PharmaChris Hite, a top Citigroup Inc. health-care dealmaker, is leaving the firm. Hite, head of the New York-based banks global health-care group for 12 years, will join Royalty Pharma, according to people familiar with the matter, who asked to not be identified because the matter is private. Royalty Pharma is a private company that invests in revenue streams from drugs. (Ahmed and Hammond, 2/27)

Carroll County Times:Insurers Wont Pay For A Hampstead Child To Get Treatment For A Rare Syndrome. A Maryland Bill Could Force Them To.In 2017, 4-year-old Jackson Mattoon of Hampstead could not have been more excited to start preschool, according to his mother Molly. He was one of those kids that just wanted to be around kids so bad, she said. The first day of preschool, we dropped him off and he ran in and didnt even look back. And then one day, Molly got a call from Jacksons teacher. He was inconsolable. (Kelvey, 3/4)

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Drugmakers Have Long Insisted Reports On Skyrocketing Rates Don't Take Into Account Rebates. Study Shows It Doesn't Matter. - Kaiser Health News

CRISPR Scientists Hack Patient’s Genes in Bid to Cure Blindness – Futurism

For the first time, doctors have attempted to cure blindness by gene-hacking a patientwith CRISPR technology.

A team from Oregon Health & Science Institute injected three droplets of fluid that delivered the CRISPR DNA fragments directly into a patients eyeball, The Associated Press reports, in hopes that it will reverse a rare genetic condition called Leber congenital amaurosis, which causes blindness early in childhood.

We literally have the potential to take people who are essentially blind and make them see, Charles Albright, chief scientific officer of Editas Medicine, told the AP. Editas is one of the biotech companies that actually developed the treatment. We think it could open up a whole new set of medicines to go in and change your DNA.

While some genetic conditions can be treated with conventional gene therapy, which would replace the entire mutated gene rather than editing it, patients with Leber congenital amaurosis were out of luck. The gene associated with the disease is too large to replace, so doctors turned to CRISPR in a bid to edit out the faulty mutation.

Once the cell is edited, its permanent and that cell will persist hopefully for the life of the patient, Eric Pierce, a doctor at Massachusetts Eye and Ear who worked on the project, told the AP.

It will take about a month for doctors to know whether this first experiment worked, the AP reports. If it does, the team has plans to gene-hack 18 more patients kids and adults with the condition.

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Berks County mother fights insurance companies to cover $2 million gene therapy drug for son – KTVZ

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WERNERSVILLE, PA (WPMT) A Berks County mother is battling with insurance companies to get her son the treatment he needs. Doctors have prescribed the toddler the most expensive drug in the world. Yet, his insurance companies deny coverage.

What is my childs life worth to you, asked Jacqueline Brewer, of Berks County.

Brewer has been in a fight with her almost two-year-old son Johns insurance companies for nine months.

Were not giving up, said Brewer.

John was a happy, healthy baby for the first six months of his life.

He was drinking from a bottle, he was nursing, he was great until he picked up a viral infection, said Brewer. it was just a simple cold.

A cold that took a turn for the worse very quickly, appearing to trigger something even worse in John.

Being in the ICU and being intubated and the doctors coming in and saying were going to do more tests and more tests and more tests and theres still nothing coming up, said Brewer. And then they said theyd like to do a genetic panel.

The genetic panel revealed John has spinal muscular atrophy, also known as SMA. Its a muscle wasting disease caused by a mutated chromosome gene.

It goes on and on and on until he basically cant move, said Brewer. He wouldnt be able to move his tongue. His diaphragm would no longer work. And its terrifying.

Johns been receiving a drug called Spinraza every four months, it helps build the proteins his body needs.

Its a little much, it takes a toll on him, said Brewer. Hes getting a stronger. Now, hes able to hold his head up a little bit.

Spinraza has a price tag of more than $100,000 per injection and is covered by Johns insurance. But, since May of 2019, theres something new on the market.

Now theres Zolgensma. Thats the one we need and that would stop the regression, said Brewer.

Zolgensma is the most expensive drug in the world, with a $2.1 million price tag, but John would only need to receive it once. The one-time treatment is actually less expensive than receiving Spinraza for five years.

It would stop where hes at, said Brewer. He would never get any worse and thats what we need.

Yet, insurance companies Aetna and Ameri-Health have continuously denied coverage of the drug.

Every doctor he comes across is saying its medically necessary for this child to have it but theyre [insurance companies] saying no, said Brewer.

Brewer has continued to receive denials letters from Johns insurance companies all saying the same thing: The request for Zolgensma was denied completely because we are not able to establish medical necessity.

Theyre saying its not medically necessary because hes already being supported, said Brewer. Hes already on a ventilator and the Spinraza injections are enough.

But, Brewer says other children with advanced stages of SMA with other insurance providers have been approved for Zolgensma.

Time is also running out for John to receive Zolgensma. The FDA only approved it for children under two-years-old. John turns to March 24th.

Its terrifying because what if they say no and dont budge and hes gonna turn two and theyre not going to budge, said Brewer. But, Im still going to call everyday, his doctors are still calling everyday, they will do everything they can. Were not going to give up. Even if he turns 2, Im not going to give up.

Brewer says she will continue to fight Johns insurance companies every single day, and if he doesnt receive the drug before he turns two, shell look for clinical trials to somehow get John this drug.

I need to know what this innocent childs life is worth, said Brewer

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First-Year Lab Experience Gave This Student the Confidence to Aim for a Ph.D. – UVA Today

A University of Virginia biomedical engineering student is trying to tackle the worlds No. 1 cause of death on a genetic level.

Rita Anane-Wae, from Ghana by way of Glendale, Arizona, and a third-year biomedical engineering student, is using a 2019 Harrison Undergraduate Research grant to seek a genetic solution to atherosclerosis, or the build-up of plaque in ones arteries, which impedes blood flow.

There are cells that will try to fix this problem by covering them and basically pushing the plaque down to allow blood flow, she said. These cells will try to reduce that plaque so that there is correct blood flow. In very serious cases, the plaque can harden and break off. Once it breaks, it can get lodged somewhere and cause a stroke or a heart attack.

Created through a gift from the late David A. Harrison III and his family, the Harrison Undergraduate Research Awards fund outstanding undergraduate research projects. Selected by a faculty review committee, awardees receive as much as $4,000 apiece to pursue their research interests, under the direction of a faculty mentor.

Anane-Wae started working in a laboratory run by Mete Civelek, an assistant professor of biomedical engineering, as a second-year student.

Civelek had already altered her life. Anane-Wae came to UVA to be a chemical engineer. She met Civelek when she signed up as a first-year student for a program that offered faculty mentoring.

At the time I was a chemical engineering major with an interest in biomedical engineering, Anane-Wae said. After talking with him, he was able to assuage my fears about biomedical engineering.

Biomedical engineering is a relatively new field and as such, I did not believe there were many jobs out there, and my parents were worried for the same reason, she said. Mete has a chemical engineering undergrad degree and a masters and Ph.D. in biomedical engineering, so he was the perfect person for me to talk to. He explained the two fields in a unique way, unlike what I had read and seen on YouTube.

Honestly, I love biomedical engineering. When I switched into biomedical engineering, literally in my first class, I though Oh, my God, this is home. I am learning about anatomy, physiology, genes and cells, and it is still all really exciting for me.

Civelek also suggested Anane-Wae participate in the research trip to Uganda through the UVA Minority Health & Health Disparities International Research Training program to perform research on congestive heart failure. While in Uganda, Anane-Wae made rounds with a doctor at a local hospital and met a 17-year-old girl suffering from congestive heart failure.

Her legs were all swollen, Anane-Wae said. She had edema and her stomach was filled with fluid. I was looking at her and thinking, This girl cant lay down because of all the swelling and she cant even be at rest. And I was thinking, She is about my age and I am fortunate enough to be traveling the world and she is here stuck in this hospital bed.

Her encounter with the girl became part inspiration to her and part reminder that congestive heart failure is not just for older patients.

I have a hard time accepting what I am capable of doing, Anane-Wae said. Being here, being in Uganda, working in the lab, it has taught me that I am basically capable of making change. I know what I am supposed to be doing with my time and my future and I know that doing it makes me happy and will make other people better.

In her lab work, Anane-Wae studies a specific gene melanoma inhibitor activity 3, or MIA3 that affects smooth muscle cells.

Smooth muscle cells are able to basically cover the plaque in that disease state, Anane-Wae said. We are running experiments to see how us modulating MIA3 affects the disease.

She said she and members of the research team in the lab also performed experiments knocking out the MIA3 gene from the cells, which led to a more serious disease state.

I think experiments like these are really important because we are not yet at the stage where we can do gene therapy on a person, Anane-Wae said. If you knock out specific genes, it will affect things that we dont understand yet.

Anane-Wae is working on a small section of a large field, but she thinks there is promise in the work she is doing.

The genome-wide association studies show that 161 different genes so far have been associated with coronary artery disease, she said. And we are studying just one. There is so much further that we have to go.

The path is really long, but we are trying to understand the mechanism by which one gene affects the disease and if we actually figure out that mechanism, we can try to apply it to the other genes and maybe understand the bigger picture.

Research can lead her down many blind alleys, which she understands. Anane-Wae is also very conscious of the law of unintended consequences, and how something that solves one problem can create other problems in the process.

We can say that about everything, she said. I think that is the way with all new development. You fix problems and new ones will arise, and then you fix those, too. So we can only do so much. But I think what I have learned is that I have found something about which I am passionate. I have found something that I enjoy and here at UVA, I have found a community of people who will help me develop my skills.

Included in that community, Anane-Wae cited Civelek and Redouane Aherrahrou, an American Heart Association Postdoctoral Fellow with whom she works.

Aherrahrou has known Anane-Wae since she joined the lab in 2018. When she first joined our lab, Rita knew only the fundamental lab skills and methods, he said. After a short amount of training, she learned rapidly and became very familiar with the cell culture techniques and appropriate lab handling. She performed the experiments independently. Her interactions with other lab members are both professional and friendly.

He described Anane-Wae as a diligent researcher, a gifted student, an inspiring person, and enjoyable to be around.

She has a great personality, is open to guidance and responds well to criticism, he said. She wants to apply to Ph.D. programs after she graduates, and I predict a great future in her career as a research scientist.

Civelek said he enjoys having Anane-Wae as part of his team.

She is hard-working, curious and eager to make a scientific impact, he said. I can see the joy in her face when she learns something new. She gets along well with everyone in the lab and is a role model to those who are junior to her. She has a bright future and I am very proud of her accomplishments.

Civelek said Anane-Wae was recently awarded a German Academic Exchange Research Internship in Science and Engineering, which is presented to only 300 students from the U.S. and Canada.

Redouane and Mete both have high standards for me and motivate me to do my very best, Anane-Wae said. They have instilled a confidence in me that I did not have prior to joining the lab, and they continuously push me to achieve great things. I am so fortunate to have these two individuals as mentors, in addition to all of the other members in the laboratory.

A Blue Ridge Scholarship recipient, Anane-Wae is member of the National Society of Black Engineers and the Society of Women Engineers. She also has received a Hugh Bache Scholarship.

Anane-Wae said she is looking at doing big things, such as gene therapy, but realizes that she has to take small steps at first, and that her friends in the lab will help her out when things go wrong.

She has also learned that research is a team effort, not a solo pursuit.

You cant do research by yourself, she said. You wont be able to get anything done. You will have to depend on other people and you have to be able to share what you have learned. You wont get anything done in any amount of time if you dont trust other people and work together.

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First-Year Lab Experience Gave This Student the Confidence to Aim for a Ph.D. - UVA Today

Extending the Options for Patients with AML by Making It Personal –

A wave of new targeted therapies expands the options in acute myeloid leukemia.

As a mother of three, I dont focus on myself a lot, says Hibbard, who lives in Yorba Linda, California, and was then 37. I was having a lot of bone pain in Vegas, but I have scoliosis, so I always have some pain. Everything just multiplied when I got back home.

She rushed to schedule a same-day appointment with her doctor. As someone in the medical field she works as an ultrasound technician Hibbard had no hesitation about learning what could be wrong. Her doctor appeared alarmed about how sick she looked and immediately ordered bloodwork.

Her platelet count was astoundingly low. A normal count ranges from 150,000 to 450,000 platelets per microliter of blood; Hibbards hovered around 20,000. She initially assumed something had gone wrong with her intrauterine device, because she had recently experienced heavy vaginal bleeding abnormal uterine bleeding can be a symptom of certain hematologic cancers.

I thought I was anemic because I had lost a lot of blood. Cancer didnt even cross my mind until the doctor came in and told me I had leukemia, she says.

A week and half after returning from her vacation, Hibbard received a diagnosis of acute myeloid leukemia (AML). This cancer of the blood and bone marrow affects more than 20,000 people each year in the United States.

For years, prognosis remained poor for patients with the disease, which has a 24% five-year survival rate for people ages 20 and older and 67% for those younger than 20, with limited treatment options. But the past two years brought an explosion of new medications approved by the Food and Drug Administration (FDA) to treat AML, particularly therapies targeting specific genomic mutations that may confer a worse prognosis.

For more than 45 years, the treatment for AML only involved intensive chemotherapy, and that was the only chance at a cure, says Amer Zeidan, an associate professor of internal medicine at Yale Cancer Center in New Haven, Connecticut. But since 2017, weve had a revolution in the treatment of AML after many years of no approved agents. I give an analogy in (terms) of before Christ and after Christ because the landscape has changed so much.


Historically, chemotherapy for the treatment of AML involves two phases: induction therapy followed by consolidation therapy. Shortly after diagnosis, a patient will undergo induction therapy to rid the body of any signs of the disease.

Most often, patients receive the combination of cytarabine and an anthracycline drug such as Cerubidine (daunorubicin) or Idamycin (idarubicin). Approximately 75% of younger adults with AML and 50% of patients older than 60 achieve complete remission, or disappearance of overt leukemia in the bone marrow, after induction treatment. Once a patient has recovered, consolidation therapy, chemotherapy or a stem cell transplant kills any remaining leukemia cells.

Early signs of AML, which is typically associated with older age (more than 65 years), history of tobacco smoking and certain inherited genetic disorders, include weight loss, fatigue, fever, night sweats, bruising and excessive bleeding. Because AML is generally widespread throughout the bone marrow and possibly other organs, it is not staged like other cancers. About half of patients who achieve remission after initial treatment will relapse.

Genomic testing revealed that Hibbard had a FLT3 mutation. The most common mutation in AML, FLT3 is found in 30% of all cases and associated with a particularly aggressive form of the disease and a higher risk of relapse. My oncologist told me, Bad news you have the FLT3 mutation. But the good news is that they just developed an inhibitor you can take, recalls Hibbard. He said it with a big smile on his face.

In April 2017, the FDA approved Rydapt (midostaurin), the first targeted therapy for AML, combined with chemotherapy to treat adults with a new diagnosis and a FLT3 mutation. The oral medication belongs to a group of drugs called FLT3 inhibitors, which block several enzymes that promote cell growth.

During Hibbards month in the hospital to receive induction chemotherapy, she experienced several life-threatening complications, including a blood clotting disorder, two strokes and a bout of sepsis. Believing she was on her deathbed; she made a video saying goodbye to her children.

Hibbard recovered, returned home and began treatment with Rydapt, which made her nauseated. The drugs other common side effects include low levels of white blood cells with fever (febrile neutropenia), inflammation of the mucous membranes and vomiting.

Hibbard achieved remission following more chemotherapy and a stem cell transplant and remains free of cancer. I was extremely excited about taking Rydapt because I felt truly blessed that there was an inhibitor for my mutation, since it was so aggressive, says Hibbard, who is now 39.

It smells horrible, and its a large pill, but I took it willingly because I knew it would improve my chances of survival.


Rydapt is one of eight drugs for AML that have gained FDA approval since 2017. Xospata (gilteritinib), another type of targeted therapy that inhibits FLT3, was approved in May2019 for adults who stopped responding to treatment or whose disease had relapsed.

The IDH inhibitors Idhifa (enasidenib) and Tibsovo (ivosidenib) target mutations in the IDH1 and IDH2 genes. Daurismo (glasdegib), Venclexta (venetoclax) and Vyxeos (CPX-351) expand the options for older patients who cant be treated with intensive chemotherapy because of its toxicities. Mylotarg (gemtuzumab ozogamicin) can be given to patients who express the CD33 antigen.

We now have a better understanding of the biology behind AML, especially the molecular mutations that drive this disease, and we have developed treatment that targets these mutations, says Dr. Kevin Kelly, an associate professor of clinical medicine at the University of Southern California in Los Angeles. One of the most important mutations is FLT3, targeted by midostaurin and gilteritinib. These drugs specifically target the leukemia cells while being less toxic on the normal tissue of the body.In a large clinical trial, patients with new diagnoses who took Rydapt along with chemotherapy lived longer than those who received chemotherapy alone. After four years, 51.4% in the Rydapt group were still alive compared with 44.3% in the chemotherapy group.

Findings from the ADMIRAL trial showed that Xospata similarly extended survival. Patients who took the FLT3 inhibitor alone had a median overall survival of 9.3 months compared with 5.6 months for those given chemotherapy alone. Though encouraging, these are early findings from new files, and long-term follow-up could bring significantly different results, cautioned experts.

Side effects of Xospata include nausea, vomiting, diarrhea, constipation, pain or sores in the mouth or throat, shortness of breath, muscle or joint pain and dizziness. The drug can also cause differentiation syndrome, a potentially fatal complication believedto be caused by release of cytokines from leukemia cells. It can be treated with steroids, but prompt recognition is key. Symptoms include fever, cough, trouble breathing, bone pain, rapid weight gain and swelling in the arms, legs, underarm, groin or neck.Differentiation syndrome is also a concern for patients treated with Idhifa and Tibsovo. Based on clinical trial results showing that 19% of patients had complete remission for a median of 8.2 months, Idhifa was approved in August 2017 for patients who relapsed or became resistant to treatment for AML. The targeted therapy homes in on mutations in the IDH2 gene, which are found in 8%-19% of patients with AML.

In July 2018, Tibsovo, which targets IDH1 mutations found in 7%-14% of patients with AML, was approved. Roughly two years later, the FDA allowed the drugs use as a first-line treatment for patients who arent eligible for intensive chemotherapy.Another type of targeted therapy, Mylotarg aims at AML cells expressing the CD33 antigen, found in more than 80% of patients. Reapproved by the FDA in September 2017 to treat patients with new diagnoses and those who relapsed or became resistant to therapy, the agent combines the unique targeting of a monoclonal antibody with the cancer-killing ability of a chemotherapy drug.

What is happening now in AML is similar to what already happened with multiple myeloma. Today, proteasome inhibitors and other biological drugs have almost completely replaced chemotherapy for almost all ages and subsets of myeloma, says Dr. Naval Daver, an associate professor in the department of leukemia at The University of Texas MD Anderson Cancer Center in Houston. With these new targeted therapies, we can improve outcome and survival in AML while reducing the need for chemotherapy and even stem cell transplants.


The lack of treatment options for older patients with AML only about half of patients older than 60 receive intensive induction chemotherapy; the rest get either gentler chemotherapy that doesnt aim to cure or supportive care without any chemotherapy has meant that many are undertreated, with poorer clinical outcomes.

Fortunately, the approvals of Venclexta and Daurismo for patients aged 75 and older bring new options. Venclexta, which blocks BCL-2 proteins, was granted accelerated approved by the FDA based on promising results from early-phase clinical trials, but two larger, ongoing studies are examining its effectiveness and safety. The rate of complete remission was up to 54% for Venclexta plus decitabine but varied depending on which chemotherapy drug was given.

There has been dramatic progress in the treatment of AML in recent years, with one of the most important drugs being venetoclax for older AML populations, who have been one of the most difficult populations to treat, Daver says. It works synergistically with low-dose chemotherapy drugs already being used, which is a major breakthrough in the treatment of older patients with AML.

Daurismo targets the smoothened, or SMO, protein that fuels the growth and spread of AML. In a clinical trial, the median overall survival in older patients who received Daurismo along with chemotherapy was 8.3 months compared with 4.3 months for those who got chemotherapy alone.

Vyxeos (CPX-351) can also be used in older patients. It's August 2017 approval was for patients with two types of prognoses: newly diagnosed therapy-related AML, which occurs as a complication of cancer treatment in 8%-10% of patients within five years after chemotherapy or radiation, and AML with myelodysplasia-related changes, characterized by a history of certain blood disorders and other significant mutations within cancer cells. Patients with these types of AML tend to be older and have additional medical issues.

A study that compared Vyxeos with traditional chemotherapy showed that patients with new diagnoses who took Vyxeos lived longer, with a median overall survival of 9.56 months compared with 5.95 months, respectively.

In addition, an investigational oral therapy, CC-486, has shown a survival benefit in patients with newly diagnosed AML in the maintenance setting. In a phase 3 trial, researchers saw that the drug extended overall survival by 9.9 months compared with placebo.

We have new drugs available for subsets of the disease, which is why the management of AML is becoming more like personalized medicine, Zeidan says. I think we are going in the direction of more targeted therapy, lower toxicity agents, combinations of different oral agents and, hopefully, incremental improvement in outcomes. Im very optimistic about where the field is going.

The wealth of drug approvals certainly gives more hope to patients with AML, especially those with a previously poor prognosis and lack of treatment options. Rapid genetic testing is leading to the early classification of disease subtypes, pushing AML treatment into the realm of precision medicine. Several clinical trials in progress aim to test combinations of the newer agents, such as Venclexta with an IDH inhibitor.

Hibbard remains thankful for the targeted therapy she received. She believes that the trust she had in the newly approved Rydapt and the entire treatment process helped save her life.

I remember being terrified, with people praying over my bedside. But Im very pragmatic, so I was very much like, OK, now what do we do? Whats the next step? Hibbard says. That was my entire battle. Today I am more than a year post-transplant and grateful to kiss my kids goodnight every night.

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Extending the Options for Patients with AML by Making It Personal -

Multimillion-grant to speed innovative device for hard-to-treat brain disorders – The Chronicle Journal

TORONTO - The signs were there, but Lidia Vetturetti says her mother refused to consider the possibility she had Alzheimer's.

By the time she was diagnosed five years ago, the disease was so advanced Nicole Vetturetti was forced to enter a full-time care facility the following year.

Lidia Vetturetti believes her mother's rapid decline was accelerated by the belief there was no point seeking help earlier.

But now, she says there's real hope for other patients and their families, thanks to a landmark $16.7-million grant announced Monday that will speed up development of targeted treatments of a variety of brain disorders including Alzheimers, brain cancer and ALS.

Just the prospect that new research could revolutionize the way doctors tackle hard-to-treat conditions is powerful stuff, she says, and would have been enough to make a difference in her own family's life.

"It would have changed everything. I would have pushed her to go (to the doctor) even sooner because I would have said, 'There's trials. As soon as we can, let's try it. It might stop this. It might slow down.' And we might have had longer with her," says Vetturetti.

"She's still here, but she's not really. I lost her a long time ago."

Sunnybrook Hospital says the funds from the W. Garfield Weston Foundation will help create a new type of focused ultrasound device that can more efficiently bypass the blood-brain barrier in delivering treatments.

The Toronto hospital will test the helmet-like device on three brain disorders, including Alzheimer's disease, breast cancer that has spread to the brain, and glioblastoma the deadliest and most common brain tumour.

The blood-brain barrier is a tightly packed network of vessels meant to protect the brain from toxins. But it can also be a major obstacle in many conditions because it prevents potentially helpful agents from entering the brain such as chemotherapy, antibodies, stem cells or gene therapy.

The hospital already does focused ultrasound treatments but neurosurgeon Dr. Nir Lipsman says this new device could allow doctors to deliver medication directly to a brain tumour, and allow more targeted treatment in multiple areas, with less medication and fewer side effects.

For one thing, the helmet-like prototype would be specifically fitted to each patient and wouldn't need an MRI for guidance, which is the current practice.

The new device also wouldn't require a patient to wear a painful frame to immobilize the head as is common now, in which four pins are inserted under local anaesthetic for several hours.

"Many of the treatments that we're envisioning are serial treatments, which means the treatments will happen over time repeatedly. And the more comfortable you can make the procedure, the more streamlined and efficient you can make it, the shorter in duration you can make it, the better it will be for patients," said Lipsman.

The hospital's foundation is trying to raise the rest of its $33-million goal for the Weston Family Focused Ultrasound Initiative.

Research like this can offer powerful hope to patients and families grappling with a frightening diagnosis, adds Vetturetti.

"Hopefully in the future people won't have to go through what I've gone through with my mother or that she has gone through as a result of this illness," she says.

"It gives me hope as well that if, God forbid, I ever was to get this diagnosis, that maybe there would be hope for me, or my children."

This report by The Canadian Press was first published on March 2, 2020

The Canadian Press. All rights reserved.

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Multimillion-grant to speed innovative device for hard-to-treat brain disorders - The Chronicle Journal

The Bad Economics of the U.S. Health Care System Shows Up Starkly in its Approach to Rare Diseases – TIME

If you ever end up in an emergency room, the first thing that happens is a doctor or nurse will check your critical vitals: your temperature, blood pressure, respiratory rate, and pulse. If those indicate your life is at risk, your care is prioritized over others who have already been waiting or who have been seen by a doctor but require additional testing (e.g. an x-ray or blood test) or a specialist to review their symptoms. This process, called triaging, is the global standard for allocating resources in emergency care.

Triaging is a marvel of modern healthcare if it is abundantly clear that you are on deaths door. But if theres no textbook description of your condition, it can leave you needlessly suffering while the experts try to figure it out. Thats often the case for those with rare diseases, a group of conditions that are not individually common, but combined, affect an estimated 10% of the global population, some 475 million people. An estimated 80% of the 7,000 identified rare diseases are caused by DNA mutations that occur during pregnancy, meaning most of those with this category of illness are born with it. In many cases, these babies emerge from the womb with life-threatening conditions that doctorsworking the triage systemwill immediately address. However, this also tends to lead doctors to then ignore the underlying rare diseasean unnecessary medical expenditure, in the triage system framework.

I am one of the people living with a rare disease.

I was born with a number of symptoms and signs that put my life at risk a collapsed lung, a premature exit from my mothers body after only six months, and malnutrition from a hole in my amniotic sac. These problems were all treated and resolved over a multiple month stay in the hospital dictated by the triage system. I was allocated hospital resources for my life-threatening conditions until I was deemed stable enough to go home: the point at which I wouldnt die if I left the care of the hospital.

But there was another problem that was overlooked, and which wasnt diagnosed until I was five years old.

Every bone in my body was bent and every muscle atrophied or non-existent. I couldnt move my neck away from shoulder; I couldnt straighten my legs, knees, arms, wrists, ankles, toes, hands, or fingers beyond fixed, fully bent positions.

The triage system worked at saving my life, but never addressed how I would live day to day or even physically move from a single location by myself. It never addressed the underlying issue and root of the problem: a rare orthopedic genetic disease.

The life or death triage standard is one of the primary reasons that it takes, on average, seven years for people with a rare disease to get a diagnosis in the U.S.and

I am one of the lucky ones. Serendipitously, a Because of these surgeries, and additional ones Ive had since, I could feed myself, live free from a wheelchair, go to school through the post-graduate level, and hold a full-time job.

The orthopedic surgeries I neededover 29 of them in less than 30 yearshave cost millions of dollars. And these costs grow each year as I undergo additional exploratory surgery in the absence of any cure. However, these costs are still lower than what I would have incurred had I been left as the triage system deemed stable as an infant. I would have required 24-hour in-home care my entire life. I would never have been able to use the bathroom alone, to get dressed alone or to even leave the house alone. The lifetime value of a working individual according to the US Office of Management and Budget is on average $7 million to $9 million. The cost of a full-time caregiver is on average $40,320 a year; if a rare-disease patient reaches the average US life expectancy of 78 years old, the lifetime cost of full-time care is at least $3 million.

Our healthcare system needs to weigh the long-term costs of leaving behind people with rare disease, and, more specifically, evaluate the economic consequences that follow at a global scale.

Even more so, we need to weigh the costs of creating a pipeline to fill the treatment gap facing people with rare disease., Using genomic sequencing, clinicians can holistically understand the genetic roots of rare disease and even potentially cure rare disease through gene therapy, which modifies and permanently fixes abnormal genes that cause a specific rare disease at birth.

Nonetheless, identifying the root genetic cause of rare disease is the only way to begin to cure a rare disease rather than just treating the symptoms in an ad hoc fashion. While certain pharmaceutical drugs can be developed from the findings in a genomic sequence to help mitigate or lessen symptoms, the science suggests the only way to cure a rare disease is to administer an even newer science called gene therapywhich modifies and permanently fixes genes that are abnormal. Considered to be the most expensive option, a However, this nascent science is costly: gene therapy costs around $2 million for current US Food and Drug Administration (FDA)-approved options.

Insurance plans in the US rarely pay for clinical-grade whole-genomic sequencing (which can carry a price tag of up to $9,000)let alone gene therapies. Yet if the most expensive cost to cure a rare disease is $2 million, thats still far less than $3 million for a lifetime of full-time care (which excludes additional expenses). And new studies, like one the World Economic Forum released in the lead up to this years International Rare Disease Day, show that we can ultimately save money in the long term by funding more treatments and, as an added benefit, potentially develop more cures by learning when treatments work and when treatments dont work.

We cant create clinical pathways for the more than 7,000 rare diseases overnight, but we need a standard of care that goes beyond using death as the primary barometer of focus, over-simplifies the complexity of what it means to be healthy, and only considers short term costs. An economically effective, new model could center on allocating resources with the end goal to allow people to reach a level of health that provides basic mobility or basic independencea level of health allowing economic productivity. We are living in a time of unprecedented medical innovation, and our system of coverage needs to catch up. We can do better than just keeping people alive.

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The Bad Economics of the U.S. Health Care System Shows Up Starkly in its Approach to Rare Diseases - TIME

State advantageous to have an economically active citizen, than to keep disabled – The KXAN 36 News

In recent years in the world of medical genetics has been a real breakthrough. New medicines through which have learned to treat disease, cure which recently even anticipated. As far as the development of the Russian medical genetics corresponds to the global trends?

Sergey Kutsev: In the world, indeed, occurred very serious changes in the field of genetics. They happen literally before our eyes, and we are talking primarily about new approaches in the treatment of orphan genetic diseases. First of all there is to say about classical gene therapy. She has nearly 30 years, and the long development has led to the fact that, for example, a few years ago appeared the first drug for the treatment of a very rare hereditary disease (1 case per 1 million), which is characterized by increase in triglycerides in the blood. The disease is accompanied by acute pancreatitis and can lead to death. Unfortunately, not all of the goals the developers of the drug have been achieved, widespread it is not found, and the high cost of treatment was unjustified.

However, development of such drugs continued. The result is a drug that can be called a real breakthrough in the world of genetics, used for treatment of spinal muscular atrophy. From this disease the child dies, as a rule, in the second year of life. So today, a single administration of this drug leads to an almost complete cure of such a severe hereditary disease. Therefore, despite the high cost of treating one child more than $2 million the price of the drug is justified.

And now of course we see great prospects of this direction, because in addition to these drugs at present, there are already a number of advanced clinical trials for the treatment of the same gene-therapy methods and other hereditary orphan diseases, among which phenylketonuria, hemophilia, some hereditary diseases WSOena.

If we talk about the domestic developments, I would say that our pharmaceutical industry is now turning its attention to the problems of patients with orphan diseases, and we follow the global developments. With regard to diagnosis and early diagnosis very important for treatment of rare diseases, it in our country is organized on a global level. And the issue here is not only in the availability of genetic diagnosis, but also in the fact that in addition to conventional methods, such as molecular genetics, we use the latest technology of massive parallel sequencing (sequencing of the new generation). These technologies allow us to diagnose a wide range of hereditary diseases.

In April last year at the Federal level was approved by the scientific-technical program of development of genetic technologies. As far as its content corresponds, in your opinion, the needs of medical genetics in Russia?

Sergey Kutsev: the Program of development of genetic technologies is quite extensive. Very important for us section on the creation in Russia of centers of genomic research at the international level. To date, three such centres: one of them is engaged in Biosafety (this refers to infectious agents), the second genetic technology in agriculture, and the third genetic technologies in medicine. Under the program, as a basic guideline deals with the editing of the genome. This decision of the government we support with both hands, because it is aimed at fostering research in the field is very promising technology, the technology of genome editing. This is the next phase in medical genetics. It is how to get the cells directly from the patient to edit the genome, that is, to correct the defect that arose in these cells, and transplanting them back to the cells subsequently multiply and, accordingly, began to produce the necessarynecessary body substances. This approach is very promising, it relates to the gene-cell technology. And, of course, the development of these technologies it is necessary to invest now, because thats the future.

You have repeatedly said that the qualification of Russian geneticists are highly valued on a global level. At the same time, the personnel issue is one of the most serious in todays genetics in Russia. Suffice it to say, doctors-geneticists, who are involved in the identification of orphan diseases in the country, only about 350. How is this problem solved at the Federal level?

Sergey Kutsev: the Shortage of personnel in genetics in Russia is pretty decent. In some regions of the country there are only one to two doctors-genetics in the region. Frames for genetics to prepare necessary. Needed professionals, especially doctors-genetics, doctors genetics laboratory.

in addition, there is a problem in the education of doctors of all specialties neurologists, nephrologists, ophthalmologists, cardiologists and so on. In practice, any doctor can meet a genetic disease. Therefore, genetics, ranging from inheritance laws to the clinical manifestations of some diseases, doctors of different specialties just have to know. The fact that undergraduate education of doctors is paid to genetics now, few hours of study. On the other hand, specialists for teaching genetics in more than 50 medical universities in the country is also not enough.

What is the output?

Sergey Kutsev: In early February at the meeting of the academic Council approved my proposal to create a large scientific and educational centre on the basis of our Medico-genetic scientific center named after academician N. P.Bochkova. We planned for 2020, the establishment of more than 15 departments in our centre and already certain areas, among which neurogenetics, ophthalmic genetics, cardiogenetics and so on. These chairs will be required to take the advanced training of physicians of different SPEcelesta in the field of genetics. So now we are talking about postgraduate education simply because the urgent need to train people who are already in practice, who would now be able to work and to identify patients with hereditary diseases at an early stage. Of course, it is necessary to engage students, education at undergraduate level, but I think now we have to extinguish the fire. And gradually increase the share of education in genetics for students of all medical universities. For refresher training were going to have about 100 of geneticists who could teach. And of course, intend to look for partners among medical universities in the country.

what are the main directions currently your genetic center?

Sergey Kutsev: Our institution is primarily a scientific center, which is the study of the etiology, pathogenesis, development of diagnostic approaches, prevention hereditary, including orphan diseases. Despite the fact that we diagnose a disease, we can diagnose any of the hereditary diseases described in the world practice.

our Second destination medicine. Every year we take more than 11 thousand patients. And when you consider that advise usually the whole family, it is more than 20 thousand people per year. Speaking of laboratory studies, in the year we spend more than 70 thousand genetic research, and on this indicator are the largest centre in Europe. According to my calculations, about 90% of diagnoses of hereditary diseases in the country were set in the walls of our institution.

And third we focus on education. To us comes more and more residents and graduate students. Now, if you count in all the courses, internship and graduate school trained more than 50 people. Thats a lot. Im sure it will be a high level of doctors and scientists.

You have repeatedly talked about the need to expand screening to 41 nosology. What has been achieved in this direction today? How effective it can be in terms of preventing the development of illness and subsequent disability of the patient?

Sergey Kutsev: At the end of December last year, we almost agreed on a program of extending screening up to 39 diseases. Of course, it is difficult to expand screening to more than 1.65 million newborns per year. But this program will allow us to annually identify more than 2 thousand children, you can help. To make it clear those children who could die in the first year of life or during childhood, or become disabled. If we identify hereditary diseases in the first days of life, in most cases we can help them to avoid death and disability.

If we talk about pharmacoeconomics, the treatment of children in these cases are relatively inexpensive and can become a large financial burden for the state. The treatment of one such patient is estimated to be worth about 500 thousand rubles.

So even those who say that the treatment of orphan diseases is expensive and costly, I can assure you that the state advantageous to have an economically active citizen than many years, to include the disabled. This path is calculated and passed in many States. In addition, the screening in this case is one of the mechanisms capable of improving the demographic indicators of the country. We hope that an expanded screening across the country will be able to start in the last quarter of 2021.

the impression that in the last year or two orphan diseases are increasingly get into the focus of attention of both society and government. In particular, it greatly expanded the list of orphan diseases of the WNV program. How do you assess the prospects for federalization, and that more needs to be done to improve the situation with rare diseases in Russia?

Sergey Kutsev: Attention to orphan diseases from the state the actubut I grew up. First, there is more understanding that this is a great medical and economic problem that needs to be addressed. By the way, according to one study, about 40% of the seats in childrens hospitals today takes children with a serious hereditary, including orphan, diseases. And expansion of screening in this case is one of the tools to change these statistics for the better. Secondly, a social problem that society can not bear to look on the suffering of children, especially when there are ways to help children with serious illnesses to remain in society and thrive together with their peers.

In my opinion, the most important thing now is to improve the skills of physicians-geneticists, laboratory geneticists, and strengthen medical genetic service in all regions. This will help to put the correct diagnosis in patients with orphan diseases. Next, we need to address questions about the creation of domestic products, modern technological approaches, classical gene therapy to develop genome editing.

on the question of the extension of the list of high-cost nosologies (VZN) that is financed at the Federal level, I am sure that gradually we have to include all orphan diseases for which treatment today there are drugs. So today on the queue can be diseases such as disease, Niemann-pick, Fabry, and others. Federalization would not only reduce the financial burden on the regions, but also will allow to solve the problem of early diagnosis of orphan diseases, and therefore, the assistance provided and the patient and his family will become more effective. In the end, with timely start of treatment, patients with these diagnoses remain economically active, reduced social burden on the budget.

in addition, under this system, a much higher control over the correctness of appointments, expensive medications and monitoring their effectiveness. A fixed price for drugs under centralized procurement havedischarges are much lower than what we saw in procurement in the regions. I believe that the government will not be able to get away from this problem and definitely solve it. Theres no other way.

Photo: iStockRare optimized

one of last years sittings of the chamber of regions, the Chairman of the Federation Council Valentina Matvienko said that the purchase of medicines for treatment of orphan (rare) diseases will be funded from the Federal budget in 2021. There is the prospect that in 2020 we will close another five diseases and in 2021 will complete the transfer of funding for the procurement of medicines for people with orphan diseases in full at the Federal level, promised the Chairman of the Federation Council.

Since the formation of the list it was 7 nosologies. Last year, the list of WNV were added to the 5 diseases that have moved from the so-called List-24, containing a list of orphan diseases, drugs for the treatment of which can be purchased at the expense of regional budgets. The necessity of transferring diseases from the List of 24 at the Federal level due to the fact that regions do not always cope with the task timely and complete provide patients with appropriate drugs, there were difficulties and the threat of treatment interruption for orphan patients. According to the Executive Director of the Union of patients and patient organisations on rare diseases Denis Belyakov, despite the fact that the availability of therapy with the diagnosis from the regional list of 24 nosology in Russia enshrined in law, the situation with treatment is not very favourable: there were cases, when, for example, the patient diagnosed with Fabry prescribed therapy is needed, but the regional authorities have not always managed to Finance the provision of medication and treatment was interrupted.

today in the regional list there were 19 diseases, among which, besides the above-mentioned Fabry disease, Niemann-pick disease, arterial LeJonker hypertension, idiopathic thrombocytopenic purpura (ITP), phenylketonuria (PKU) and others. This is a severe genetic disease, leading to disability and often to death.

Experts say that the introduction of rare diseases in the WNV program will allow patients to get necessary drugs fully. In addition, the federalization of orphan diseases provides pricing transparency in the procurement of products and flexibility of a regional supply of medicines. It is very important that patients even with severe orphan diagnoses whose treatment begins in a timely manner, throughout their life are able to remain economically active members of society, is no different from a healthy person.

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State advantageous to have an economically active citizen, than to keep disabled - The KXAN 36 News

UAE’s first gene therapy improves eyesight of two Emirati sisters – Gulf News

Alia (2nd from left) and her father (left) with Dr Arif Khan (3rd from left), paediatric ophthalmologist and ocular geneticist at Cleveland Clinic Abu Dhabi, and other hospital doctors at a press conference in Abu Dhabi. Alia and her sister, Hessa, were the first to receive gene therapy in the UAE. Picture by Samihah Zaman, Image Credit:

Abu Dhabi: Two Emirati sisters from Abu Dhabi have become the first to receive gene therapy in the UAE, it was announced in the capital today.

The therapy was conducted with the aim of saving the vision of Alia, 13, and Hessa, 11, who suffered from retinal damage due to a defective gene.

The vision-saving surgery was performed at Cleveland Clinic Abu Dhabi in January (2020), and doctors said at a press conference that they are hopeful it will slowly improve the vision of both patients.

"The prospect of slowly losing one's vision from an untreatable condition is traumatic for both children and their parents. This genetic therapy means we can now replace the faulty gene in the eye, saving and even improving the vision of an individual who would otherwise have eventual irreversible blindness," said Dr Arif Khan, paediatric ophthalmologist and ocular geneticist at the hospital.

Only centre in region with procedure

Cleveland Clinic Abu Dhabi is only one of 10 centres worldwide, and the only one in the region, that is qualified to offer this procedure - the first gene therapy that was approved by the Food and Drug Administration in the United States, doctors said. But its availability opens the doors for more gene therapies to be offered to treat conditions as varied as diabetes and spinal muscular atrophy, they added.

Weve travelled abroad multiple times to find some treatment for our daughters, and this procedure has been a godsend. It has only been a month since the therapy however, and we are hoping for much more improvement to their vision over time, Fatima, the girls mother, told Gulf News.

The procedure

Alia and Hessa were born with RPE65-related retinal dystrophy, a genetic dystrophy in which the RPE65 protein is lacking because a child inherits two copies of the defective RPE65 from both parents. It is a recessive disease and therefore rare, and known to affect one in 200,000 people worldwide. But the condition is also more common in the region because of the limited genetic pool and cultural preferences for consanguineous marriages.

Patients with the condition face gradual damage to their retinas, the photosensitive layer at the back of the eye, and could eventually end up with irreversible blindness.

The gene therapy to treat the condition uses a vector - a bioengineered non-pathogenic virus to deliver normal copies of the RPE65 gene to the eye.

The procedure takes only about an hour, but it is very delicate. The retina can be considered an offshoot of the brain because its cells are very thin, like brain tissue. We use advanced microscopes to create openings in the white of the eye, then use a specialized canula to reach under the retina and inject the vector into the specific area, which can be as small as one-tenth of a millimeter, explained Dr Emad Abboud, chief of the department of the posterior segment at the hospitals Eye Institute.

Post-surgical recovery takes only about a week, but outcomes take a while to become obvious.

As Dr Khan explained, the main benefits for patients receiving the therapy is an improvement of vision in low-light conditions, and an improvement of the visual field.

Vision is a complex sense, involving photosensitivity, visual field, visual acuity, colour sensitivity, motion sensitivity, and the ability to navigate. But [at the least], this therapy prevents the progressive deterioration of the retina, he explained.

What the family said

My handwriting has definitely gotten better, Alia told Gulf News when asked about how the therapy has helped.

I cant tell what else will get better but I already feel that this has been life-changing, she added.

According to Fatima, she noticed her daughters had visual impairment when they were as young as two months old.

The doctor pointed out to me that they were not focusing or making eye contact. So we were aware of the condition. It definitely made life very challenging, especially as their development was delayed, the mother explained.

Alia and Hessa both crawled and walked late, and have needed assistance getting around. While they kept pace with their peers at school, it took Hercualean efforts from both girls, their parents, shadow teachers and at-home tutors, and required the use of Braille and visual aid resources.

Fatima and her husband, Mubarak, kept looking for treatments for both girls, travelling to Germany, India and Spain.

In 2016, we visited the Cleveland Clinic Abu Dhabi, and it was then that we heard of this revolutionary treatment. It was still not approved by the FDA, but we kept dreaming, she said.

It has been a month since the surgery and the doctors said they are more photosensitive now and that this is a good sign. Of course, as a mother, I would love for them to eventually have complete vision, Fatima added.

What is the therapy?

The UAE Ministry of Health and Prevention (MoHAP) approved the gene therapy for RPE65-related retinal dystrophy, Luxturna, in June 2019.

In a statement released at the time, the MoHAP said its registration of Luxturna was only the third global registration of the drug at the health authority level, and was aimed at paving the way for future gene-based therapies for complex conditions.

The United States Food and Drug Administration only approved Luxturna, developed by gene therapy developer, Spark Therapeutics, and the Childrens Hospital of Philadelphia, in late 2017.

The gene therapy to treat the condition uses a vector - a bioengineered non-pathogenic virus to deliver normal copies of the RPE65 gene to the eye with the defective gene.

While the Cleveland Clinic Abu Dhabi did not provide the cost of treatment, international media reports put it at $425,000 (Dh1.56 million) per eye.

Benefits of gene therapy

Dr Khan said at the press conference that us familiar with a few more families with the RPE65-related retinal disorder.

Over time, gene therapy could be used to treat many conditions. The eye is uniquely suited for these therapies because it is a self-contained organ. But at least five other genetic therapies are in development, some at the human trial level, he explained.

Consider gene delivery to be like providing a protein factory to the body. So for instance, some diabetic patients require regular insulin injections. If a gene could be engineered to make insulin, and it could be delivered to the patient, he wouldnt need these regular injections, Dr Khan added.

Continued here:
UAE's first gene therapy improves eyesight of two Emirati sisters - Gulf News

If DNA is like software, can we just fix the code? – MIT Technology Review

When you first meet her, you wont be able to tell that Ipek Kuzu suffers from a rare genetic disease. The three-year-old plays happily on her own for hours, driving her toy cars and cooking in her pretend kitchen. But shes not well. Shes a little wobbly on her feet and doesnt say much, and if nothing is done, she may die by her mid-20s. Ipek has ataxia-telangiectasia, or A-T, a disease caused by an error in her DNA. It causes the loss of brain cells, along with a high risk of infection and cancer.

Its the sort of problem that makes doctors shake their heads. But Ipeks father, Mehmet, and mother, Tugba, hope shell escape that fate. Thanks in part to the persistence of Mehmet, a programmer at Google, in January she became one of the first handful of US patients to receive a hyper-personalized gene medicine, tailored to treat a unique mutation. The one-person drug, designed for her by a Boston doctor, Timothy Yu, is being called atipeksen, for A-T and Ipek.

To create atipeksen, Yu borrowed from recent biotech successes like gene therapy. Some new drugs, including cancer therapies, treat disease by directly manipulating genetic information inside a patients cells. Now doctors like Yu find they can alter those treatments as if they were digital programs. Change the code, reprogram the drug, and theres a chance of treating many genetic diseases, even those as unusual as Ipeks.

The new strategy could in theory help millions of people living with rare diseases, the vast majority of which are caused by genetic typos and have no treatment. US regulators say last year they fielded more than 80 requests to allow genetic treatments for individuals or very small groups, and that they may take steps to make tailor-made medicines easier to try. New technologies, including custom gene-editing treatments using CRISPR, are coming next.

Where it had taken decades for Ionis to perfect its drug, Yu now set a record: it took only eight months for Yu to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

I never thought we would be in a position to even contemplate trying to help these patients, says Stanley Crooke, a biotechnology entrepreneur and founder of Ionis Pharmaceuticals, based in Carlsbad, California. Its an astonishing moment.

Antisense drug

Right now, though, insurance companies wont pay for individualized gene drugs, and no company is making them (though some plan to). Only a few patients have ever gotten them, usually after heroic feats of arm-twisting and fundraising. And its no mistake that programmers like Mehmet Kuzu, who works on data privacy, are among the first to pursue individualized drugs. As computer scientists, they get it. This is all code, says Ethan Perlstein, chief scientific officer at the Christopher and Dana Reeve Foundation.

A nonprofit, the A-T Childrens Project, funded most of the cost of designing and making Ipeks drug. For Brad Margus, who created the foundation in 1993 after his two sons were diagnosed with A-T, the change between then and now couldnt be more dramatic. Weve raised so much money, weve funded so much research, but its so frustrating that the biology just kept getting more and more complex, he says. Now, were suddenly presented with this opportunity to just fix the problem at its source.

Ipek was only a few months old when her father began looking for a cure. A geneticist friend sent him a paper describing a possible treatment for her exact form of A-T, and Kuzu flew from Sunnyvale, California, to Los Angeles to meet the scientists behind the research. But they said no one had tried the drug in people: We need many more years to make this happen, they told him.

Courtesy Photo (Yu)

Kuzu didnt have years. After he returned from Los Angeles, Margus handed him a thumb drive with a video of a talk by Yu, a doctor at Boston Childrens Hospital, who described how he planned to treat a young girl with Batten disease (a different neurodegenerative condition) in what press reports would later dub a stunning illustration of personalized genomic medicine. Kuzu realized Yu was using the very same gene technology the Los Angeles scientists had dismissed as a pipe dream.

That technology is called antisense. Inside a cell, DNA encodes information to make proteins. Between the DNA and the protein, though, come messenger molecules called RNA that ferry the gene information out of the nucleus. Think of antisense as mirror-image molecules that stick to specific RNA messages, letter for letter, blocking them from being made into proteins. Its possible to silence a gene this way, and sometimes to overcome errors, too.

Though the first antisense drugs appeared 20 years ago, the concept achieved its first blockbuster success only in 2016. Thats when a drug called nusinersen, made by Ionis, was approved to treat children with spinal muscular atrophy, a genetic disease that would otherwise kill them by their second birthday.

Yu, a specialist in gene sequencing, had not worked with antisense before, but once hed identified the genetic error causing Batten disease in his young patient, Mila Makovec, it became apparent to him he didnt have to stop there. If he knew the gene error, why not create a gene drug? All of a sudden a lightbulb went off, Yu says. Couldnt one try to reverse this? It was such an appealing idea, and such a simple idea, that we basically just found ourselves unable to let that go.

Yu admits it was bold to suggest his idea to Milas mother, Julia Vitarello. But he was not starting from scratch. In a demonstration of how modular biotech drugs may become, he based milasen on the same chemistry backbone as the Ionis drug, except he made Milas particular mutation the genetic target. Where it had taken decades for Ionis to perfect a drug, Yu now set a record: it took only eight months for him to make milasen, try it on animals, and convince the US Food and Drug Administration to let him inject it into Milas spine.

Whats different now is that someone like Tim Yu can develop a drug with no prior familiarity with this technology, says Art Krieg, chief scientific officer at Checkmate Pharmaceuticals, based in Cambridge, Massachusetts.

Source code

As word got out about milasen, Yu heard from more than a hundred families asking for his help. Thats put the Boston doctor in a tough position. Yu has plans to try antisense to treat a dozen kids with different diseases, but he knows its not the right approach for everyone, and hes still learning which diseases might be most amenable. And nothing is ever simpleor cheap. Each new version of a drug can behave differently and requires costly safety tests in animals.

Kuzu had the advantage that the Los Angeles researchers had already shown antisense might work. Whats more, Margus agreed that the A-T Childrens Project would help fund the research. But it wouldnt be fair to make the treatment just for Ipek if the foundation was paying for it. So Margus and Yu decided to test antisense drugs in the cells of three young A-T patients, including Ipek. Whichever kids cells responded best would get picked.

Matthew Monteith

While he waited for the test results, Kuzu raised about $200,000 from friends and coworkers at Google. One day, an email landed in his in-box from another Google employee who was fundraising to help a sick child. As he read it, Kuzu felt a jolt of recognition: his coworker, Jennifer Seth, was also working with Yu.

Seths daughter Lydia was born in December 2018. The baby, with beautiful chubby cheeks, carries a mutation that causes seizures and may lead to severe disabilities. Seths husband Rohan, a well-connected Silicon Valley entrepreneur, refers to the problem as a tiny random mutation in her source code. The Seths have raised more than $2 million, much of it from co-workers.

Custom drug

By then, Yu was ready to give Kuzu the good news: Ipeks cells had responded the best. So last September the family packed up and moved from California to Cambridge, Massachusetts, so Ipek could start getting atipeksen. The toddler got her first dose this January, under general anesthesia, through a lumbar puncture into her spine.

After a year, the Kuzus hope to learn whether or not the drug is helping. Doctors will track her brain volume and measure biomarkers in Ipeks cerebrospinal fluid as a readout of how her disease is progressing. And a team at Johns Hopkins will help compare her movements with those of other kids, both with and without A-T, to observe whether the expected disease symptoms are delayed.

One serious challenge facing gene drugs for individuals is that short of a healing miracle, it may ultimately be impossible to be sure they really work. Thats because the speed with which diseases like A-T progress can vary widely from person to person. Proving a drug is effective, or revealing that its a dud, almost always requires collecting data from many patients, not just one. Its important for parents who are ready to pay anything, try anything, to appreciate that experimental treatments often dont work, says Holly Fernandez Lynch, a lawyer and ethicist at the University of Pennsylvania. There are risks. Trying one could foreclose other options and even hasten death.

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Kuzu says his family weighed the risks and benefits. Since this is the first time for this kind of drug, we were a little scared, he says. But, he concluded, theres nothing else to do. This is the only thing that might give hope to us and the other families.

Another obstacle to ultra-personal drugs is that insurance wont pay for them. And so far, pharmaceutical companies arent interested either. They prioritize drugs that can be sold thousands of times, but as far as anyone knows, Ipek is the only person alive with her exact mutation. That leaves families facing extraordinary financial demands that only the wealthy, lucky, or well connected can meet. Developing Ipeks treatment has already cost $1.9 million, Margus estimates.

Some scientists think agencies such as the US National Institutes of Health should help fund the research, and will press their case at a meeting in Bethesda, Maryland, in April. Help could also come from the Food and Drug Administration, which is developing guidelines that may speed the work of doctors like Yu. The agency will receive updates on Mila and other patients if any of them experience severe side effects.

The FDA is also considering giving doctors more leeway to modify genetic drugs to try in new patients without securing new permissions each time. Peter Marks, director of the FDAs Center for Biologics Evaluation and Research, likens traditional drug manufacturing to factories that mass-produce identical T-shirts. But, he points out, its now possible to order an individual basic T-shirt embroidered with a company logo. So drug manufacturing could become more customized too, Marks believes.

Custom drugs carrying exactly the message a sick kids body needs? If we get there, credit will go to companies like Ionis that developed the new types of gene medicine. But it should also go to the Kuzusand to Brad Margus, Rohan Seth, Julia Vitarello, and all the other parents who are trying save their kids. In doing so, they are turning hyper-personalized medicine into reality.

Erika Check Hayden is director of the science communication program at the University of California, Santa Cruz.

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If DNA is like software, can we just fix the code? - MIT Technology Review

Patients are leading the way in the fight against rare diseases – Fast Company

Several years ago, I was working in the White House Office of Science and Technology Policy where I had the privilege of helping lead the effort to develop President Obamas Precision Medicine Initiativean effort that aimed to catalyze a new era of medicine where patients receive the right treatments at the right time.

On the day of the launch, a young man named Bill Elder came to visit me in my office. He had bright eyes, brown hair, and a big grin on his faceall of which was remarkable, because Bill also had a rare, deadly disease called cystic fibrosis. And at 27 years old, he was about to hit the median age of survival.

Cystic fibrosis is a progressive, genetic disease that causes frequent and difficult to treat infections, and over time, limits the ability to breathe. Growing up, Bill had been able to manage some of his symptoms with therapy and medication, but he also knew that most CF patients didnt live past their twenties. While steady advances were extending life expectancy by a few years at a time, there was no treatment that would address the root cause of his disease, and little hope that one would arrive in time to save his life.

And yet, it didbecause around the time that Bill was born, a critical alignment was emerging between CF patients and researchers. The Cystic Fibrosis Foundation, founded in 1955, had spent decades organizing the patient community and building a national patient registry. That paved the way for new researchand in 1989, a team of scientists led by now-NIH Director Francis Collins identified the gene responsible for cystic fibrosis.

One breakthrough led to the next. The Cystic Fibrosis Foundation set up a clinical trial network and funded therapeutics development and drug screening efforts to search for treatments. And it worked. In 2012, the FDA approved a new, first-of-its kind treatment that addressed the underlying cause of the disease for a small subset of CF patients.

Bill was among the first five patients to receive the drug. He took his first pill before he went to bed one night in February 2012and at about 2 a.m., he woke up with a sensation he hadnt felt in 15 years. He could breathe through both nostrils. Not only that, he could actually smell. The drug was working, and Bill realized that his future had changed overnight.

Years later, that story still floors me. Bill now expects to live a full and healthy life. While the drug that helped Bill was initially approved for only 4% of CF patients, it opened the door to a new treatment approach that is now poised to help 90% of the community.

For me, the central lesson here is that a highly organized group of patients can play a pivotal role in accelerating medical research. Today, Im on a quest to see how we can empower more patient communities to lead the fight against their own rare diseases.

The need is immense. Like cystic fibrosis, many rare diseases are deeply debilitating, if not deadly. And although they are individually rare, they are remarkably common. Experts believe there are at least 25 to 30 million Americans living with a rare disease, and roughly 400 million worldwide.

Unlike cystic fibrosis, though, for the vast majority of the worlds rare diseases treatments are not yet in sight. In fact, 95% of diseases do not have an approved treatment. The reasons are multifold: from difficulty identifying patients for studies to difficulty collecting patient data, from a lack of awareness to a lack of funding to support research.

What this means is that there are hundreds of millions of rare disease patients, half of them children, who are left with little hope. Their disorders might be every bit as threatening as a common cancer or heart diseaseor more. But for the vast majority of these diseases, the science isnt moving forward fast enough. Thirty percent of children with a rare disease die before their fifth birthday.

The good news is that we dont need to accept that kind of inequity. When patient communities have the tools and resources to organize themselves, they can dismantle the barriers to medical researchand drive progress toward treating even the rarest diseases.

In fact, this is already happening. David Fajgenbaum is a medical professor who has Multicentric Castleman disease, a rare and deadly immune disorder. Little was known about Castleman disease when Fajgenbaum was diagnosed in 2010. Patients tended to be isolated, and the research community was fractured. Fajgenbaum decided that the best hope for saving his own life would be to get the Castleman community working together.

[Image: iStock]Today, more than 1,400 patients, clinicians, and researchers are doing exactly that. Together, the Castleman Disease Collaborative Network has defined research objectives, funded projects, shared dataand deepened our understanding of the disorder. Fajgenbaum has applied those insights to his own treatment. And he has driven his disease into remission.

Other rare disease patients are building research networks and infrastructure to study their diseases. In 2007, Josh Sommer created the Chordoma Foundation, which has enabled the identification of more than 20 drug targets and launched seven clinical trials. The Tuberous Sclerosis Alliance, led by Kari Rosbeck, has enrolled more than 2,000 patients in its network and driven groundbreaking research into the disease. The list goes on.

One thing these groups have in common is the belief that they can lower the barriers to studying their diseases. Our goal at the Chan Zuckerberg Initiative is to help them.

As a first step in this project, called Rare As One, weve made grants to 30 rare disease organizations to support them in building patient-led research networks. In addition to funding, we will work to develop the internal capacity of these organizations to achieve their missions. We will encourage these groups to collaborate with one another, and develop a common body of knowledge about how best to build, sustain, and direct their networks. By working in partnership, we aim to develop a set of tools and resources that can be applied to the fight against many rare diseases.

Weve also started working directly with rare disease leaders like Brian Wallach, who is building a movement to fight amyotrophic lateral sclerosis (ALS). Together, were identifying software tools and infrastructure that could help other rare disease communities expand their reach and achieve their priorities.

Of course, there are more than 7,000 different rare diseases, and a strategy that works for one community may not always transfer to another. But in the coming years, we hope to get to the point where any group of patients will have a basic road map they can followto organize their communities, define their priorities, work directly with researchers, and advance the science of their disease.

Thats a future where fewer people are losing everything to a little-known disease for which there was no hopeful path to follow. And its a world where there are more people like Bill Elderwho, now a young doctor himself, has dedicated his life to saving others.

Tania Simoncelli, CZI Science Policy director and Rare As One project lead. For the past 20 years, Tania Simoncelli has designed advocacy strategies and policy solutions to address complex issues at the intersection of science, technology, law, and ethics.

Currently, she leads Science Policy at the Chan Zuckerberg Initiative. Previous roles include positions at the Broad Institute of MIT and Harvard, the White House Office of Science and Technology Policy, the U.S. Food and Drug Administration, and the American Civil Liberties Union. In 2013, Simoncelli was named by the journal Nature as one of 10 people who mattered for her work in spearheading the ACLUs successful Supreme Court case challenging the patenting of human genes.

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Patients are leading the way in the fight against rare diseases - Fast Company

Brave dad on ‘loneliness’ that comes with having breast cancer as a man – Manchester Evening News

Dying Of Flu, College Student Used Cellphone To Call 911. He Died When Police Couldn’t Find His Location. – Kaiser Health News

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Excerpt from:
Dying Of Flu, College Student Used Cellphone To Call 911. He Died When Police Couldn't Find His Location. - Kaiser Health News